The appointment of barr's body is carried out for diagnosis. Distribution code:3

2.9. Cytogenetic studies Cytogenetic studies in gynecological practice allow diagnosing defects and articular lesions. It is important that the nucleus, which avenges one chromatin body of Barr, is called chromatin-positive, and for this reason - chromatin-negative. Chromatin-positive nuclei are visible for at least two X chromosomes, as, for example, with the XX chromosome complex in healthy women, and chromatin-negative - with a normal human XY chromosome complex. Also, chromatin-positive nuclei can be streaked in Klinefelter's syndrome with different (XXY, XXY/XY) chromosome complexes, which can cover 2X or more chromosomes. Beware of becoming, for which the cores are avenged by 2 bars of Barr (XXXY, XXXY / XY-sets) and hit by three (XXXY / XXXXY-set and in.). Vidpovidno and chromatin-negative nuclei judder in Shereshevsky-Turner syndrome with chromosome set X0 and other chromosome mosaics. The main rule is that between the number of chromatin bodies and the number of X chromosomes, there is more precise correlation: the number of Barr bodies in the nucleus of the plant is one less than the number of X chromosomes. [Stor. 34 ⇒]

Chromosomes of the sublog are restored already during flooding. The main constant parameter of this lance: when XY chromosomes are set, it determines a person to become, XX - a woman. In case of ambiguity of the gonadal and especially phenotypic status, further assessment of the chromosomal status is carried out. Barr's bodies are seen (in cells of the mucus mouth, fibroblasts or leukocytes), they are condensed chromatin cells, which show inactivation of the X-chromosome. The number of Barr bodies (state chromatin) is one less than the number of X-chromosomes in them: with the XY genotype, it is normal 0, with XX - 1, with XXY - 1, with XXX - 2, etc. . [Stor. 203 ⇒]

The main feature of the female state is in the interphase nuclei of the somatic cells of the state chromatin (Barr body). Barr and Bertram in 1949 discovered small chromatin slits in the nuclei of female intestinal neurons. Nadalі so tiltsya were described in the nuclei of neurons and other interphase clitins of females of different species of creatures, human zocrema. The cells were called Barr's cells, or the state chromatin. The state chromatin is a small round somersault, it is good to be the main one itself and to another X chromosome. It appears in the interphase nuclei of clitin savtsiv and people had a nuclear membrane, In leukocytes, chromatin can be seen. [Stor. 308 ⇒]

State chromatin is identified in the majority of clinal nuclei of females (60-70%). In the cages of males, the vins do not sound. The other X-chromosome is inactivated until the differentiation of the hosts. Inactivation of one of the X chromosomes is a mechanism that improves the balance of genes in all somatic cells of people and women. For normal functioning of cells, only one X-chromosome is enough, the other is not activated. Human clitins have more than one X-chromosome, since they are despiralized and active, so chromatin does not appear in the nuclei of human clitins. In this manner, with a normal clitin, a woman can bear only one body of Barr, and the clitin of a man does not conceive. Tiltsya Barra is found in the first stage cells and oocytes, they appear in the cells of the embryo after 2-3 years of development. The karyotype of a normal woman has two X-chromosomes, one of which is inactivated and folds state chromatin. In a woman with a history of karyohypocytosis (monosomy X, or Shereshevsky-Turner syndrome), the clitin nuclei do not avenge state chromatin. With trisomy on the X-chromosome, clitins in a woman show two globular chromatins. Individuals with a 47 XXY karyotype have one fold, the same as in normal women. The sex chromatin represents one of the X chromosomes, which is in an inactivated form. [Stor. 309 ⇒]

Until a long time ago, one of the good epigenetic phenomena was the inactivation of the state X-chromosome in female placental succulents (layonization). The somatic clitins of females with savants have two X-chromosomes, it is common and the set of genes on them is dependent, in pairs with the somatic clitins of males, in which there is only one X-chromosome in the nucleus. To compensate for the dose of genes in females, one of the X chromosomes is inactivated due to the formation of a specific nuclear structure, called Barr's body. At the heart of the process... [Stor. 201 ⇒]

The people of Barr's body have daily. It doesn't matter if the number of Barr's bodies is equal to the number of X-chromosomes behind a fraction of one. For the detection of the Y-chromosome in the interphase, vicory is prepared with AT-specific fluorochromes. In this case, the great heterochromatic block of the second arm of the Y chromosome is even more clearly fluorescent. The number of such blocks depends on the number of Y-chromosomes. For sampling preparations of mitotic chromosomes, vicarious cultures of leukocytes in peripheral blood are most often used (Fig. 114). The remaining fates, as a group of chromosomal abnormalities, are seen in microcytogenetic syndromes (microdeletions and microduplications). vicorist molecular cytogenetic methods [Stor. 219 ⇒]

Chromosome 7 is followed by the X chromosome after the expansion. In half of the species, the Y chromosome is a partner, a small chromosomal rudiment. Ale, due to the presence of the Y chromosome, to become deposited in an organism. The small state chromosome of the female embryo transforms into a human one in savians and flies, and now, a human embryo into a female embryo - in metelics and birds. In the protileous state, in clitins, there are two X chromosomes, and in the other case, it is impossible to speak about a pair of chromosomes. In the okremo taken cell, there is only one vipadkovy selected chromosome X, and the girlfriend is inactivated and strongly packed in the so-called body of Barr. In this way, the X and Y chromosomes are closely related to the state (although not 100%!) to the basis of differentiation and signify the individual. They are called state chromosomes. People with one X chromosome always come as their mother. A father can come either a Y chromosome, or a man or an X - either a woman. The vines grow, for example, women with X and Y chromosomes. Such women... [Stor. 126 ⇒]

For the help of the method, the presence of X and Y of the state chromatin is assigned, which determines the right state belonging. State chromatin (Barr's body) - in a seemingly compact fold in the nuclei of somatic clitins, only in women. Vin is found in the epithelial cells of the empty mouth, the vaginal epithelium and the cells of the hair cibulin. [Stor. 12 ⇒]

Aleles of vinyatok - in a heterozygous organism, different clitins synthesize different proteins, and manifest different alleles. Possibility of showing different alleles with greater diversity of proteins that are synthesized. Such a picture is observed in B-lymphocytes, which synthesize antibodies to sing antigens. Oskilki tsі immunoglobulins are monospecific, skin lymphocyte is responsible for vibrating between the expression of the batkivsky or maternal allel. Alelina vydbuvaetsya and in case of inactivation of one of the X chromosomes in individuals of homogametic state, which will lead to a change in the dose of X-genes in all representatives of the state (for example, in women in skin cells, there is only one X-chromosome, x-chromosome, x-chromosome, In this way, the female organism in humans is mosaic, because in different cells different chromosomes can be expressed). phenols. [Stor. 18 ⇒]

Irrespective of those that women have two X-chromosomes, and humans have only one, the expression of the genes of the X-chromosome is shown on the same line in both articles. This is explained by the fact that in women, in skin cells, one X chromosome is inactivated. The qi chromosome can be interphased in the form of a heterochromatic body, called the Barr body (div. ch. 22). The X-chromosome is inactivated at an early stage of embryonic development, which indicates the time of implantation. With this, in different clitins, the batkiv or maternal X-chromosome is turned off in a different way. [Stor. 508 ⇒]

In 1949 M. Barr and C. Bertram established that in the nuclei of nerve cells taken from female individuals, a fold of chromatin is revealed at the nuclear membrane, which is intensively formed. In the nuclei of clitin, like in the form of human beings, such a bend, sound, does not appear. Vaughn bula was named Barr's body or state chromatin. It was established that Barr's body had one inactivated X chromosome. [Stor. 56 ⇒]

Dol_dzhuyut cells of the mucous membrane of the mouth empty, vaginal epithelium or hairy cibulin. In the nuclei of female clitins, the diploid set has two X chromosomes, one of which is partially inactivated (spiralized, slit packed) already at the early stages of embryonic development and is visible in glybini, heterochromatin attached to the shell of the nucleus. An inactivated X chromosome is called static chromatin or Barr's body; Normally, women show one glob of X-chromatin, while men do not. [Stor. 26 ⇒]

Klinefelter syndrome. The first Bulo was described in 1942. Frequency 1:500-700 newborns. Nearly 80% of all diseases are associated with the presence in the karyotype of the complementary X chromosome (47, XXY). In such boys, it is possible to detect Barr's tittle in 15-25% of the epithelial cells of the buccal mucosa, in other patients, mosaic forms are recorded. [Stor. 48 ⇒]

Barr's body with one inactivated X chromosome appears in the interphase nucleus in the appearance of a condensed and heavily infested body. As a rule, it lies up to inner side the nuclear membrane may be oval or triangular in shape. Rosemary tiltsya Barr to become an average close to 1 micron (± 0.3). Sliding the body of Barr into other structures, which are well prepared, the interphase nucleus, for example, the nucleus or the centrally milled chromocenters. [Stor. 36 ⇒]

Although the theoretical frequency of chromatin X in mucosal cells of the empty mouth becomes 100%, in practice it is possible to detect Barr's body in less than 30-40% of cases. The reason is based on the following factors: - exclusion of centrally dispersed chromocenters from the baby; - Overhead of deyakh clitin one on one, which complicates an accurate analysis; - the presence of Bar-negative cells, as a result of damage to the condensation of the X chromosome; [Stor. 37 ⇒]

In pathological changes associated with a defect in the number of chromosomes X (gonadal dysgenesis), Barr's body can: appear in men (47, XX), be common in women (45, X) or be present in additional specimens in both articles (polysomy). x). [Stor. 37 ⇒]

In addition to the cytogenetic method, it is possible to expressly diagnose changes in the number of state chromosomes by way of designating Barr's body, or state chromatin, in the nuclei of lymphocytes or in cells of the buccal epithelium of the mucous membrane. Apparently, one of the X-chromosomes is inactivated due to special features of the woman. In the analysis of the female karyotype, the inactivated X-chromosome looks like a well-farmed compact chromatin, ruffled under the nuclear membrane. This structure is called state chromatin, or Barr's body. Yoga manifested by ourselves in a simple way cytogenetic designation of state authority. X-chromosome inactivation is reached by way of supercoiling, which leads to the impossibility of transcription of the genes and the remaining ones. More than 1000 genes have been identified in the X chromosome, and only 100 genes in the Y chromosome, so the inactivation of one of the X chromosomes leads to a dose increase of the working genes in men and women. Such a phenomenon is called the effect of dose compensation. When expressly diagnosing vicarious, it is routinely contaminated with acetoorcein, which allows one dark globular chromatin - Barr's body - to be seen on the periphery of the nuclei of the cells of the epithelium of women (46, XX). In a normal state, chromatin may be found in 10-30 cells over 100, but less than 10-30% of these cells are found at the interphase station, and the lines are subdivided. [Stor. 28 ⇒]

The inactive X-chromosome in the interphase nuclei may look like a highly condensed heterochromatic structure (the so-called Barr's body). On the surface of the active homologous chromosome, the inactive X-chromosome replicates less like the S-phase. May be all genes that are encoded by the inactive X-chromosome spend their life until expression. The inactive camp becomes even more stable, and there are more and more reactivations in other areas. In case of normal development, reactivation occurs less in germ cells immediately before meiosis. [Stor. 100 ⇒]

State heterochromatin In somatic cells of females, state chromatin appears in the form of heterochromatin - a small well-farmed rounded structure, 0.8-1.1 μm in size, which is found in the nuclear membrane. The sex chromatin is also called the Barr's body, to that the first time we learn about it in the neurons of the intestine. Later, it turned out that state heterochromatin is present in somatic cells of all female statuses, including humans. Statevium heterochromatin is one of the X chromosomes, as it is found in an inactive, supercoiled state. Apparently, the phenotype of the disease in humans is manifested either by the presence of the Y-chromosome, and not by the number of X-chromosomes. If there is one Y-chromosome in the karyotype of the zygote, and the number of X-chromosomes outweighs one, then a person is formed behind the phenotype. The number of Barr's bodies in clitins is always one less, the number of Xchromosomes is lower. That is why there is only one X-chromosome in the somatic cells of a human being, and a man, and a woman who is always in an active state. A normal woman has two, and a man has one X-chromosome, in connection with which the inactivation of the other X-chromosome in women in a state-like heterochromatin serves as a mechanism for compensating for a dose of genes, which does not contribute to the development of state signs of X-signs, chromosome. This same mechanism is a factor that causes X-chromosomal aneuploidy noses. How many X-chromosomes did not carry a stink, only one is genetically active. Other... [Stor. 45 ⇒]

X-chromosomes are known as facultative state heterochromatin. Therefore, for the number of Barr bodies in somatic cells, it is possible to diagnose a form of aneuploidy. For example, women with karyotype 47, XXX have two Barr bodies, and women with karyotype 45, XO have the same. Individuals with XXY karyotype have one. Program "Human Genome" Development of new technologies of molecular studies based on advanced methods of DNA robotics, introduction of molecular genetic studies into practice of computer technologies for the analysis of various systematic groups, development of techniques for directing the genetic apparatus of clitin In general, the Possibility of the creation of piece enzymes for the nucleotide sequence of a DNA fragment, the pace of development of molecular genetics of a large nature, was brought to the end of the 80s, for example. international program "Human Genome". This is a global project for the complete sequence of all three billion nucleotide lanokes to form the human genome. The adoption of such a program means that the nature of the development of molecular biology has reached a completely new level. A kind of yak_sny streak in technology allows you to create new principles in principle. [Stor. 46 ⇒]

Facultative heterochromatin in the interphase nucleus is a constant, in є spiralization of euchromatin. In metaphase chromosomal facultative heterochromatin does not appear. For example, in the nuclei of * icioK women in the diploid set, there are two X-chromosomes, one of which is completely inactivated (spiralized, slit-packed) already at the early stages of embryonic development and is visible in the appearance of heterofomatin, attached to the shell of the nucleus. The zavdyaks of all women and human organisms are highly valued for the number of functional genes that have been added to the status, because humans have one X-chromosome and one dose of the genes of the H chromosome. An inactivated X chromosome is called a chromium state I and not a Barr body. Sexual chromatin sounds like a path for analysis of epithelial cells in the mucous membrane of the cheeks. Occurrence of 1st Barr's disease in women to report chromosomal disease - Shereshevsky-Turner syndrome (karyotype 45, XO). Presence in human body III fiappa is evidence of a recessionary illness - Kline's syndrome 14-l world (karyotype 47, XXY). [Stor. 17 ⇒]

Express-diagnostics - the determination of state X-chromatin (Barr's body) in the nuclei of clitins of the mucous membrane of the oral cavity, the vaginal epithelium or the clitins of the hairy cibulin. For the detection of X-state chromatin, smears are covered with acetarcein and preparations and looked over with the aid of a superb light microscope. Normally, women show one glob of X-chromatin, while men do not. [Stor. 37 ⇒]

A classic example of facultative heterochromatin is the functionally inactive (inactivated) X chromosome, which is present in interphase somatic cells, which may have two X chromosomes, in the so-called state chromatin (Barr's body). Significantly, the inactivation of one of the X-chromosomes in the embryos of the female stage occurs at early embryogenesis, more precisely at the blastocyst stage, but before the introduction of oocytes in meiosis, reactivation occurs. The butt of reverse heterochromatization can also be a small plate, which is established by X- and Y-chromosomes in spermatogenesis and is less likely to be in the prophase of meiosis (at the stages of zygoteny - odor). [Stor. 7 ⇒]

For prenatal diagnosis of chromosomal imbalances, especially in the case of vaccinia in women of a mature age, or those who have already given birth to a child with chromosomal defects, widely used adjuncts for the cultivation of amniotic cells and fetal cells. Metaphase preparations can also be prepared from chorionic villi, biopsied in the 3rd trimester of pregnancy. The follow-up of state chromatin can be carried out by vicorous cells of the nucleus, which are in interphase. Incidentally, the most available cells of the mucous membrane of the empty oral cavity and hair follicles, can also appear as clots, removed during surgical operations and autopsy and cultivation. X-chromatin (formerly called Barr's bodies) are condensed bodies adhering to the nuclear membrane, which are formed from the chromatin of one X-chromosome and are present in normal female cells. In skin specific cells, X-chromatin is converted by a genetically inactivated X-chromosome, which replicates naturally. Also, the number of X-chromatin bodies is an indicator of the number of X-chromosomes over one. Y-chromatin is a predominantly genetically inactivated segment of the Y-chromosome, which appears to be infected with acridine bark and fluorescent microscopy, present in the interphase nuclei of Y-test cells (for example, cells 48, XXYY to replace one X-chromatin and two). In obscure cases without pregnancy, preparations of meiotic chromosomes of the testicular biopsy are informative. From these, it is possible to help identify translocations and genetically disrupted meiotic mating. For the identification of more subtle chromosomal abnormalities, conventional cytogenetic methods can be supplemented with recombinant DNA technology. For the presence of locus-or-segment-specific probes, it can be said that the segments are damaged by perebudova, for the manifestation of such a value, the permission of the male technique is insufficient. Probes for RFLP (guessing more) are often used in prenatal diagnostics for identifying the shift of the other chromosome, which has been reduced by the fetus. It may be effective in cases of vagity that are accompanied by a risk of X-cell infection, the shards allow you to signify that the single X-chromosome of the fetus of a person is the same, as you carry a specific disease locus, which obviously can, I attack, I will attack m'yazovoi dystrophy Duchenne. chi hemophilia. Informative can be recombinant technique and for minds that accompany the dominant type of decline, like for Huntington's chorea. In this case, the presence in the fetal genome of an unrelated mutant gene should be judged by the presence of RFLP, which is closely linked to the mutant genome. Some genes have probes for the mutant genes themselves. Probes specific to the Y-chromosome can be used to become an embryo or a fetus by poor clitin, we can take a biopsy of the chorion villi or aminocentesis. This method may have a diagnostic value in obscure types of bisexuality, allowing the detection of the Y-chromosome or the segment in the genome. In a number of cases, it is necessary to carry out an analysis of chromosomes in metaphase with the method of revealing some genetic material, caused by external factors (radiation, chemical influx, virus). In order to investigate such possibilities in a specific individual or population as a whole, it is possible to vicariate cells that proliferate in vivo. An alternative method is to continue the culture of clitin, which is injected with an additional agent for the purpose of determining its development to clastogenesis (that is, the lamanna of chromosomes) or to the induction of chromatid exchange and perebudov. A test system, less cumbersome, lower metaphase-chromosomal analysis, but also an adnexal indication of chromosomal breakdowns, which can be seen both in vivo, and in vitro, can also determine the proportion of parts of cells with micronuclei. The micronucleus settles down, as a fragment of the chromosome without a centromere is trapped in anaphase (which becomes obov'yazkovo and becomes) and enters the core of the telephase nucleus. Micronuclear analysis is informative and in case of previous clastogenic exposure of populations, as it is equivalent to mutagenic and carcinogenic exposure. 214... [Stor. 214 ⇒]

The frequency of mid-term births is 1:10,000. - Monosomy on the X chromosome (karyotype 45, X0) - Shereshevsky-Turner syndrome. The phenotype is female, ale in somatic clitins of the Barra type. Upovіlneniy articles razvitok, bezpіddya, zatrimka growth. Frequency - 1: 5000 newborns. – Disomia of the X-chromosome due to the presence of the Y-chromosome (karyotype 47, XXY) – Klinefelter's syndrome. Folks, in somatic clitins, there is only one body of Barr. The genotypes are more likely to traverse: 48, XXYY, 48, XXXY. Upgrading the state of development, without a puff, high growth with broken proportions of the body (slower tip, thoracic spleen), often rosum's hardness is suspected. Frequency - 1:700 newborns. 6. Medico-genetic counseling Medico-genetic counseling is a specialized type of medical assistance - the most extensive type of prevention of ailments. The essence of yoga is helping to determine the prognosis of a child with a recessive pathology, explaining it to consultants and helping them to make a decision about keeping children away. More like the 20th years of S.M. Davidenkov in Russia was the first in the world to organize medical and genetic consultation at the Institute of Neuro-Psychiatric Prevention. Vіn clearly formulating the task of the method of medical genetic counseling. However, the development of this galusy of prevention and genetics of the people was wildly galvanized in the 30s practically in all the different lands. It was because of this that in the Nazi Germany, in order to back up the genocide, the genetic concept was victorious, and forced sterilization was carried out as a method of "recovery of the race." The term "medical-genetic consultation" means two concepts: 1) consultation of a doctor-geneticist as a medical visnovok; 2) Structural support for health care (for medical purposes, for joint, polyclinic and other). Indications for medical genetic counseling are: 1) the birth of a child with a congenital vada of development; 2) inserted or suspected spadkovy ailment in this case in the broad meaning of the word; 3) obstruction of the physical development of chi Rozumov's strength in children; 4) repeated spontaneous abortions, abortions, stillbirths; 5) near motherland; 6) injection of suspected teratogens or other teratogens in the first 3 months. vagity; 7) unfavorably exceeded vaginess. In principle, a skin-friendly couple can undergo a medical genetic consultation. [Stor. 40 ⇒]

Tse tilce Barr chi statevy heterochromatin. Yoga identification is the simplest way of cytogenetic diagnostics of the state. We guess that there are practically no homologues of genes of the X chromosome in the Y chromosome, however, the inactivation of one of the X chromosomes leads to the fact that the dose of more genes, localized on the state chromosomes, in men and women mechanisms of gene dose compensation. The process of inactivation of the X-chromosome is called lyonization, and it may have a reversal character. Therefore, in the body of a woman, the spiving of clitin with an inactivated X-chromosome of the father or maternal will be approximately the same. In this way, women heterozygous for a mutation in a gene localized in the X chromosome may have a mosaic phenotype - one part of the clitin will avenge the normal allele, and the other part will be mutant. Partitioned 1.3. Spontaneous and induction mutagenesis Uspіhu... [Stor. 22 ⇒]

The great vitality of the female organism is determined by biological, endocrine, behavioral, social and other factors. Barr and Bertram (1949) showed an intensely sagging chromatin in the nuclei of female nerve clitins, similar to that of male clitins. Voni named yogo statevim chromatin (Barr body). It was later established that Barr's body is one of two X-chromosomes, that it is in the inactive (inactivated) state and that the number of Barr's bodies is one less, the number of X-chromosomes in the karyotype is lower. 13... [Stor. 13 ⇒]

In somatic cells of females with two X-chromosomes, it is common and the set of genes on them is dependent, in pairs with somatic cells of males, in which there is only one X-chromosome in the nucleus. To compensate for the dose of genes in females, one of the X chromosomes is inactivated to form a specific nuclear structure, called Barr's body. Expression is the basis of this process. [Stor. 105 ⇒]

Barr's body may be attached to the nuclear membrane, may be roztashovuvatysya in karioplasma or represent a nuclear growth in the blood cells (drumsticks in neutrophils). 7. Chromosomal diseases of the state. When the state chromosomes are damaged during the process of meiosis in humans, chromosomal diseases can develop: ♀ ♂ Х Y XY 0... [Stor. 57 ⇒]

XX and XY - normal female and human organisms. XX* - a normal female organism, which has taken off the offending state of the chromosomes from the mother. XY* - a normal human organism, which, after having offended the state of the chromosomes of the father. Y0, 00 - non-resident individuals. XXX – trisomy X syndrome. Karyotype – 47, XXX. The female phenotype. Population frequency is 1:800–1:1000. The nuclei of somatic clitins can be 2 barr. High age. Status behind the human type. In 75% of cases, rozum's strength is noted. Underdevelopment of primary and secondary state signs, impaired function of the ovaries. Others can be mothers of children. X0 - Shereshevsky-Turner syndrome. Karyotype - 45, X0. The female phenotype. Population frequency 1:2000–1:3000. The nuclei of somatic clitins do not suffocate Barr's body. Growth in adults 135-145 cm. Underdeveloped ovaries and secondary state signs. Such ailments are harmless. With this syndrome, the intellect does not suffer. Likuvannya: early hormone therapy. XXY, XXXY - Klinefelter's syndrome. Karyotype - 47,XXY, 48,XXXY. Human phenotype. Population frequency is 1:400–1:500. The nuclei of somatic cells can be avenged by one or two Barr's bodies. High age. Female type of statue. Gynecomastia - increase in milk follicles. Weak development of the hairline, underdevelopment of the testis, disorders of the process of spermatogenesis (especially bezprednі), albeit statutory reflection of the preservation. Decrease intelligence. The more X chromosomes in the genotype, the more the intellect suffers. 57... [Stor. 57 ⇒]

Due to presence in the karyotype of another state chromosome of the gonads: a) differentiate; b) do not differentiate; c) on the їх mіstsі utvoryuyutsya happy tissue strands; d) often atrophy; e) more atrophied. 94. Apply damage to the physical determinants of a person's status: a) become genetic; b) homosexuality; c) transvestism; d) gamete sublog; e) hermaphroditism. 95. Transvestism - tse, if a person: a) chooses a state partner in another state; b) choose a state partner of your state; c) the status of satisfaction is reached when you change into clothes in another status; d) request to change your position; e) free. 96. Recording the karyotype in Shereshevsky-Turner syndrome: a) 46, XY, 5p-; b) 45, X0; c) 47,XXY; d) 47,XX.21+; e) 46, XX, 9p +. 97. Recording the karyotype in Klinefelter syndrome: a) 47, XXY; b) 45, X0; c) 47, XXX; d) 46,XY; e) 46, XY, 9p +. 98. Tiltse Barra - ce: a) Y-chromosome is active; b) Y-chromosome is inactivated; c) the X chromosome is active; d) the X chromosome is inactivated; e) inactivation of the X and Y chromosomes. BASICS OF HUMAN GENETICS (ACTIVITIES I, II) 99. Problems of development of human genetics: a) simple karyotype; b) early stage of maturation; c) small number of naschadkiv; d) a large number of naschadkiv; e) the possibility of experimentation. 100. Stages of genealogical analysis: a) history taking; b) assignment of frequencies of genes and genotypes in a population; c) genetic mapping of chromosomes; d) learning the role of the middle in showing signs; e) analysis to the parent. 101. The sequence of steps in the cytogenetic method: 1) treatment of cells with hypotonic NaCl; 2) farbuvannya chromosomes; 3) mitosis with colchicine at the metaphase stage; 4) cultivation of clitin on piece life-giving mediums; 5) stimulation of mitoses by FDA: a) 1-5-3-4-2; b) 4-5-3-1-2; c) 4-1-5-3-2; d) 5-3-4-1-2; e) 4-5-1-3-2. 102. The Holzinger formula is used to calculate: a) the frequency of genes and genotypes in a population; b) the coefficient of decline; c) the role of the medium in the manifestation of signs; d) imovirnosti inheritance; e) the stage of genetic risk. 103. Biochemical methods of genetics of human beings - culture: a) general blood analysis; b) plasma enzyme activity; c) activity of enzymes in shell juice; d) the warehouse of the primary section; bud) spacious structure of enzymes. 210... [Stor. 210 ⇒]

Tandem Repeat 8.1 T-Banding 5.4 Telomere 5.1 Telomerase 5.6 Telomer Reints 5.6 Tel Faise 5.2 Taurus Barra 10.1 Testicular Feminization 9.3 Topoisomerasis 6.3 Point Mutation 6.10 Transition 6.10 Transmission 6.10 Transcription 7.1 Transcription Factor 6.3 Transcription 6.3 Translation 5.9 Translation RNA 6.1 Triploidy 5.8 Trisomy Trisomy 5.8 Tuberous sclerosis 11.2 Rozumova syndrome 12.2 Unique DNA sequences 8.1 Phenylketonuria 9.3 Fibrodisplasia 9.3 Philadelphia chromosome 5.9 Fragile site 5.9 319... [Stor. 177 ⇒]

FIELD OF THE DII GENE - the area of ​​manifestation of the activity of this gene (clearly christened between hair growth) POLYDACTYLY - richness. Autosomal dominant decline. POLIMER is a chemical composition that can be folded, that is formed from similar structural elements - monomers. Polymerases are enzymes that combine okrem monomers into a polymer molecule (DNA polymerase, RNA polymerase). POLYMERIYA - a type of intermodality of a few non-allel dominant genes, in some skins it is stronger for a few, showing signs (spread, intensity of infection). POLIOVULATION - overnight ripening of a few eggs in a person. The reason for the development of dizygotic twins. POLIPLOIDYA - an increase in the set of chromosomes in clitin, a multiple of haploid (3n-triploid, 4n-tetraploid, etc.). POLISOM - group of ribosomes. Polit is the process of bagatorase replication of DNA with the adopted giant (polyten) chromosomes without increasing their number. Polyembryony is a special kind of stateless reproduction, with which the development of decile embryos from one zygote occurs. The reason for the development of monozygotic twins. Pogney of Dominuvannya - Type of Domestic Alelnia Geniv, with a Domannant Alel Missthey Prigіchuє Rezesivniy (Zhovti Kolіr Goroins Dominuє Over the Greek Half X-Chromatin (Taurus Barra) - SpіralInzovna Nevelunkitskyi X-Chromosome; Choulіkіv - Clainfelter's Syndrome) Polіmerіya - Type of Modemode dominant genes, with which the skin is strong enough to show signs. [Stor. 19 ⇒]

Supply 34+36. Methods of genetics. Falling ill. 1. Genealogical method (by ancestry) 2. Bliznyuk method 3. Cytogenetic method (short-hour culture of leukocytes in peripheral blood). This method is conspicuous in the diagnosis of low illness. Behind the body of Barr, you can assign a medical charge. 4. Population method gives information about heterozygosity and polymorphism of human populations. So, for example, there was a widening of the alleles of the blood group system. The population method allows to determine the adaptive value of specific genotypes. [Stor. 2⇒]

The peculiarity of this disease is that all hemizygous people carrying the mutant gene are strongly affected by the lining, that they die internally. In the result of Tіlki Zhіkanki, Holvori on the price of Zorzorivnya, spend from the field of Lіkarіv, the Vikniku іднойдний Відорізний відний отомонна дининаннанненный обовувувная Відовувняя отовунный, заменая STATU, such, thoughtty, Yak Crack of dairy brux, Mutatsiyu in Gene BRCA1. If the mutant gene "disappears" for Ar-scheme of dominant disease, then 50% of the daughters and 50% of the blue mother will be sick, so, like in case of autosomal dominant disease, the disease will be the same for the children of both articles. , or 50%. In this type, the rodovid does not allow the separation of two types of decline. Zapіdozriti according to the ancestral line Ag-zcheplene dominantly ill allow rodovіd, in which case the father is ill. So, as a father passes his chromosome X to all his daughters, then when you have a large number of sick girls and also a large number of healthy boys, this is an admission about the LH-cell dominant disease, which will decline in this family, you can be reasonable. 5.6.1. Chromosome X inactivation Presence in men only one chromosome I, and in women two chromosomes have been inserted, which is why all physiological and biochemical signs in both articles appear approximately the same, although genes that control these signs are locally due to , due to increase in women the product is higher, lower in people. Cytologically, it has long been established that the j chromosome in female somatic cells may look like a thin heterochromatic body (Barr's body). More often than not, they thought that there were heterochromatic regions of both X chromosomes. However, later it was brought to light that X-chromatin was formed by only one X chromosome. It was allowed to assume that the chromosome was inactive. In 1961 M. Flaion admitted that in different cells in a woman, either the maternal or the father’s X chromosome is inactive. results approximately 50% of clitin may be active father, another 50% - maternal chro79... [Stor. 80 ⇒]

A stop codon is a triplet of m RNA bases, which determines the end point of translation of m RNA K. Structural genes are genes that code for proteins. Submetacentric chromosome - a chromosome, in which the center of the o m e r a c o n o m at the end of the c o n n o s of the shoulders is located, at his shoulder. Zcheplennya - a camp in which there are two locks on one chromosome, and the frequency of roc o m b i n and c i y medu n i m i o a z i v e t c i is less than 50%. Tandem repeat - o d o a t e l n o s t i D n c v a t e l n a d a n a d o r o th o th . Telomere is the end of the chromosome. Telomerase is an aminotransferase, as a replacement for the sequence of cells in DNA in telomirah x r o mo s o m pid hour of cellular rozpodil. Telophase - stop zі stages of m і t o z a і m ey o z a, if up to black chromo so o m o r o m o r o s o n a l a y t s i o t and in o p l o n n n n y s o s in cli n i o p o n a t o d i n d i n a n d i n o n o r o ch k i. Tiltse Barra - in fact and viruvannya an ch r o m o s o m and X, visible as an intensity and in a new painted mass of ch r o m a t i n a, in c a m a t i h s to i x clitinah women. In o n o ch a t o sya so very yak articles chr o m a t n. A teratogen is a substance that can cause developmental defects. Zoshita - on b about r z chotirioh g o m o l o g i h n i ch r o m a t i d dermal homologues and h n their chromosomes), which can be observed in prophase I and metaphase I of meiosis. [Stor. 438 ⇒]

3.21). The sex chromatin is also called the Barr's body, to that the first time we learn about it in the neurons of the intestine. Later, it turned out that state heterochromatin is present in somatic cells of all female statuses, including humans. Homologous state of the chromatin structure, the so-called "drumsticks" were found in the nuclei of polymorphonuclear leukocytes. Statevium heterochromatin is one of the X-chromosomes, as it is found in an inactive, super-syralized state. Apparently, the phenotype of the disease in humans is manifested either by the presence of the Y-chromosome, and not by the number of X-chromosomes. If there is only one Y-chromosome present in the karyotype of the zygote, and the number of X-chromosomes outweighs one, then ... [Stor. 62 ⇒]

For example, women with karyotype 47, XXX have two Barr bodies, and women with karyotype 45, XO have the same. Individuals with XXY karyotype have one. The establishment of state chromatin from the X chromosome occurs at the early stages of embryonic development. "Zhіnocha" zygote ssavtsіv, shcho split up, may have two functionally active X-chromosomes. In humans, chromatin is established at the stage of development of the germ of a sprat, hundreds of cells. In the trophoblast, X-chromatin was detected on the 12th day of development, and in the embryonic embryo, on the 16th day. State chromatin settles down at once in all clitins of the embryo. In this hour, the most acceptable hypothesis is that, in different clitins of one organism, there can be inactivated different X-chromosomes: in some - the father's, in others - the mother's. Tobto for the X-chromosome women are mosaic. The position can be seen on the basis of the activity of the enzyme glucose-6-phosphate dehydrogenase (G6PD), the gene of which is located on the X chromosome. Women may have two alleles of the gene, and men only one. The average level of activity of this enzyme is similar to that of the representatives of both articles, also, the mechanism of dose compensation may be worked out. In heterozygous women, two G6PD alleles can be detected for additional electrophoresis in different clitins. Mosaicism for G6PD was revealed in a number of robots on erythrocytes in vivo and on fibroblasts of healthy tissue in female cultures. Tiltsya Barra is not present in all women. So, offended x-chro... [Stor. 63 ⇒]

Analysis of the splitting of the eyes in F2 in reciprocal variants (3:1 and 1:1) and similar. 3. Statement of schemes of decline, signs of eye confusion and signs of “falsehood” with a subdivision of state chromosomes (to create genetic symbolism for the identification of state chromosomes). Nagolosity, that in this reciprocal variant of breeding in another generation, only males will be white-eyed. From otrimanih results rush vysnovok, scho decay sign, zcheplenih z pіdlogu, povnistyu podpіda rozpodіl stateevyh chromosomes in meiosis and їkh poddnannya when plіdnennі. Apply primar, zcheplenih zі statyu, in humans (hemophilia, daltonism and іn). The inherited signs of white congestion of the eyes in Drosophila with non-separation of state chromosomes. When analyzing a large number of flies, it is possible to appear in F1 single (on average 1 per 2000) "vinyatkovye" individuals, for example, in crossing 1 - a white-eyed male or in crossing 2 - a white-eyed female and a red-eyed male. These facts can be explained by the rare differences in chromosome inseparability in meiosis and by the peculiarities of the status in Drosophila. Balance theory of destination of the article. As far as humans are concerned, the presence of the Y chromosome in Drosophila is not necessary for the development of the human phenotype, although it is necessary for fertility (spermatogenesis). Gender in Drosophila depends on the number of X chromosomes before the set of autosomes (X/A). X/A = 1 – normal female, X/A = 0.5 – normal male. 0.5 1 - obviously "super male" and "super female" (lowered life expectancy). Depending on these regularities, the behavior of “vinyatkovy” individuals in these reciprocal crossbreedings is explained: Genes, localized in Y-chromosomes, those holandric signs that are signified by them (for example, genes that indicate the fertility of males in Drosophila). Crim sign, zsheplenih zі statyu, see signs, obmezhenі statyu, and signs, fallow statu. Signs intermingled with the article are encoded by genes that are found in autosomes or chromosomes of both articles, but only appear in one of the articles. For example, the milkiness and fat content of milk in cows, the absence and growth of eggs in chickens. Signs, deposits in the article - signs, the nature of the dominance of which are indicated by the article. For example, in humans, the allele of the gene, which signifies an early obliquity, is dominant in humans and recessive in women. Having shown fallow statis, a sign is indicated by the number of human and female stave hormones in the body. Inactivation of X-chromosomes in females of savts, state chromatin. Tiltsi Barra. Mosaicism in female individuals heterozygous for genes localized on the X chromosome. Ailments of people, zchepleni zі statyu. Decreased illness, as determined by dominant mutations of the X chromosome. Peculiarities of transmission of dominant signs (illness) linked to the article: 1. Both men and women are affected. Ale sick women twice as many, lower sick people. 2. Mustache daughters of a sick father will be sick, blue is healthy. 3. If the mother is homozygous for this sign, all the offspring will be ill, if ... [Stor. 4 ⇒]

RLP - polіmerazna lantsyugova reaktsіya PE - prizmatichny epіtelіy RA - reaktsіya aglyutinatsії WG - rilіzing hormone RІBT - reaktsіya іmmobіlіzatsії blіdih treponemes RІF - reaktsіya іmunoflyuorestsentsії RNA - ribonukleїnova acid RP - reaktsіya systemically Chervoniy vovchak Choe - shvidkіst osіdannya eritrotsitіv SSS - Sertsevy-sudinna system STG - somatotropic hormone TG - thyroid trophic hormone TG - USU a - swelling necrosis factor a FGF - fibroblast growth factor FSH - follicle-stimulating hormone hCG - chorionic gonadotropin cAMP - cyclic aminosine monophosphoric acid CMV - cytomegalovirus CNS - central nervous system uterus ECG - electrocardiography EKO - extracorporeal flooding EMK - endometrial-uterine coefficient of EPP - Epstein-Barr virus. [Stor. 16 ⇒]

The appointment of X-chromatin is carried out in the epithelial cells of the mucous membrane of the mouth and the lungs, in the nuclei of mature neutrophils. The nucleus, which avenges one chromatin body of Barr, is chromatin-positive, and not vengeful - chromatin-negative. Chromatin-positive nuclei are clustered for the presence of at least two X chromosomes, that is. with XX-chromosomal set in healthy women, and chromatin-negative - with normal human XY-chromosomal... [Stor. 29 ⇒]

Thus, the number of Barr bodies in each nucleus is always less than the number of X chromosomes. The purpose of X-chromatin may be significant for the diagnosis of chromosomal abnormalities, hermaphroditism, adrenogenital syndrome. Thus, chromatin-positive nuclei are juddered in Klinefelter's syndrome with different chromosome complexes (XXY, XXY/XY). Some nuclei may have 2 and more Barr bodies (XXXY/XXXXY). Chromatin-negative nuclei are streaked in Shereshevsky Turner syndrome with the chromosome set of XO and other chromosome mosaics. With a buccal and vaginal test, 100 cells are recovered: in women with a female genotype on the skin, 5 cells in one of them show one body of Barr, with a human genotype - no more than 100 cells, to avenge the body of Barr. When the genotype is assigned to the nuclei of neutrophils (leukocyte test), 500 neutrophilic leukocytes are detected in blood smears: the female genotype is characterized by more than 6 cells with Barr's bodies ("drumsticks"), and with a human - less than 4. For this, in the amniotic rіdina (with amniocentesis), fetal clitini are freely floating desquamated. Analysis of the karyotype is based on the number of chromosomes. The study of the karyotype is carried out on metaphase preparations of chromosomes obtained from the culture of lymphocytes in peripheral blood, the cystic brain, and also in the upper limbs. Before the genetics of the pathologia, waddled by the number of H-chromosomes, deprecate: ♦ Dysgenezia Gonad, at the Yakiy Seutvish region, Khromosomoy (45, Ho) - "Mosaichnia", Kliki Klіtin Misnі Kilkіsnі Klomosoma, from raison clones can be present both X- and Y-chromosomes. The presence of the Y-chromosome, or else the plantation, disrupts the formation of the entire stalk (ovary). The incompetent gonads develop elements of the testis, slender to

X-chromatin(Tilce Barr) - chromocenter with a size of about 1 μm, which is more intensively processed by all the main nuclear barrens, lower chromatin structure of the nucleus. Felgen-positive reaction indicates a high concentration of new DNA.

Localization of X-chromatin the nucleus has a difference. In most tissues, the veins are found on the inner surface of the nuclear membrane and may have a tricot, flat-swollen, trapezium-like, U-like or dumbbell-like shape. Sometimes, X-chromatin can look like a sweat or a tooth of the nuclear membrane, connected with the nucleus with a thin chromatin thread. In fusiform and rod-shaped nuclei, X-chromatin is scattered at one of the poles of the nucleus.

Rіdshe X-chromatin spread on the nucleus or in the nucleoplasm, when localized, the veins may have a spherical shape and it is important to infuse in other chromocenters, which can cause such a rozmіr, but not specific to the state. Therefore, due to the method of diagnosing the state affiliation of clitin, more dosledniks guard the chromocenter, less rotting at the nuclear membrane.
Position of X-chromatin can change in some and the same cells fallow in their functional state, as well as in the process of ontogenesis.

X-chromatin manifestations in clitins of various tissues in rich tissues; in rodents (hamsters, bee-eyes, bears, guinea pigs) the chromatin structure of the nuclei is represented by a large number of chromocentres, which complicate the X-chromatin manifestation. In humans, the status of viability in the bud nuclei has been practically installed in all tissues and organs.

Similarity to X-chromatin. In the process of the clitinic cycle, the chromosomes recognize regular transformations, so they change in the spiralization and despiralization of the chromosomes and their reproduction. In interphase, maximally despiralized chromosomes make up the nucleus with a remarkably homogeneous place. Reproduction (DNA synthesis) of chromosomes is less likely to occur in the despiralized state of S-interphase.

Spiralizing chromosomes enter the prophase of mitosis and reach the greatest spiralization in the metaphase of mitosis and meiosis. With this stench, there may be minimal specific activity. At one time it was established that the chromosomes are permanently non-uniformly spralized after a long time and are subdivided into heterochromatic and euchromatic regions. Morphologically, these districts differ for the intensity of infection and structural organization.

Euchromatic districts in interphase the nuclei are despiralized, at that hour the heterochromatic tends to be overspread in a spiralized compact state, looking like chromocenters with a high DNA content. Spiralization of heterochromatic regions is accompanied by an inactive camp of genes, as they have. Tsya osoblivіst power also deakim euchromatic areas with highly functionally differentiated genes. Being spiralized at the stage of the interphase nucleus, the euchromatic regions are also genetically inactive.

Heterochromatization- a universal mechanism of genetic inactivation of chromosomal plots regardless of whether stinks can be seen in heterochromatic or euchromatic areas. Also, the chromocenters that appear in the interphase nucleus can be fused with heterochromatin, as well as with euchromatin. One of these chromocenters is X-chromatin.

Sche Barr i Bertram made an admission about the connection to the phenomenon of X-chromatin with X-chromosomes. Since that time, the X-chromosomal nature of the X-chromatin has been confirmed and clarified by the data of numerical reports.

X-chromatin adoptions of one of the X-chromosomes of female cells, which are found in a heterochromatic state. Being spiralized, this chromosome is genetically inactive. In different clitins of catfish in females, according to the principle of regression, the X-chromatic makes up the X-chromosome, it is removed either from the father, or from the mother. Also, cells of the female organism are mosaic for the function of the X-chromosome: in some, the father's chromosome is active, in others the maternal chromosome. The establishment of the state chromatin in female clitins is genetically understood.

This is confirmed by the fact that in the early period of human embryonic development If by looking at the gonads it is not possible to become, the egg shells of the embryo of a human being cannot develop X-chromatin, regardless of the influx of hormones in the mother. In the embryo of the female state, X-chromatin is developed on the 16th day of development, if there are 2500-5000 cells in the embryo.

Technological card of practical employment

Topic " The genetics of the state in humans. Tiltsya Barra and their diagnostic significance».

Vikladach of biology DBPOU KKBMK - Lina Petrivna Chortkova

Trivality 90 min (2 years)

Objectives of the initial lesson:

Lighting:consolidate, expand and destroy knowledge on topics.

Developing: to continue the development of smarter development of theoretical knowledge in practice; accept the development of a logical thought; smart to analyze, see the smut.

Vikhovna: take a peekrecognized for their health and wellness.

Wimogi to die, know:

Know:

Budova and see metaphase chromosomes, karyotyping, Denver classification of chromosomes.

Please note:

Reveal morphological diversity between okremi chromosomes and groups of chromosomes;

win the knowledge of the cytological bases of recession for the completion of the day;

Voloditi algorithm for decoupling tasks

Lighting technologies: technology differentiated approach for the trainee; special developmental,problem-situational training, information and communication technologies

Methods and methods of learning:explanatory-ilustration (explanation, instruction); methods, which determine the logic of education: (pairing, aggregation, systematization); methods that stimulate and motivate the initial-learning activity (task accomplishment), often random.

Take care of:

Initial-study, handout material: methodical introductions to practical employment.

Technical background: handouts on the topic· little ones: “Chromosomal recruitment of a person and a woman; schemes of differentiated harvesting of chromosomes

Literature:

1. Medical genetics: assistant / ed. N P. Bochkova. M: GEOTAR-Media, 2014.
2. Lecture notes

Dodatkovі dzherela:

1. Akulenko L. V., Ugarov I. B. Biology with the basics of medical genetics. Moscow, view. group "GEOTAR-Media", 2011

2. Internet resource: www.msu-genetics.ru

Intersubject links:anatomy and physiology of a person, biology.

Internal subject links between divisions:“Cytological and biochemical bases of recession”, “Methods of treating recession and sluggishness of people in normal and pathological conditions”, “Recession and pathology”.

Basic understanding:karyotype, chromosome, metacentric, submetacentric and acrocentric chromosomes, chromatin, euchromatin, heterochromatin, state chromatin (Bara's type).

Chronological map of employment

	Stages of initial employment	Victory	Hour
	Organizational moment.	re-checking the present, good-looking students, re-checking the readiness of students before employment.	2 min
	Goal setting, post motivation.	goloshennya: those, її problem food; busy goals.	2 min
	Appreciation of the external level of knowledge.	Terminological dictation (robot on arkush control)	5 min
		Vikladach to control the work of students in zoshites.	60 min
	Translation of documents.	The vikladach reverifies the correctness of the vikonannya task	5 min
	Uzagalnennya, systematization of knowledge		10 min
	Pіdbitya pіdbagіv.	Presentation of ratings from the comments of the vikladach	5 min
	Homework	Preparing for the next busy day.	1 hv
	together		90 min

Abstract of employment

1. Organizational moment
2. Goloshennya those and goals of employment, motivation and actualization.

Enter the word vikladach:The problem of the shifting of articles of authority, the mechanism of the appointment of articles and the improvement of the primal spiving of articles in the cicava population and at the same time is very important for theoretical biology. Food, why the boys and girls are popular around the equal number, why the spiving of articles is in the majority of creatures from generation to generation, it was impossible to praise the scientists. It was revealed impersonal health, and yet they did not take away the scientific confirmation of doti, the development of genetics and cytology did not reveal the mechanism of the decline of status.

Problem statement.

Most of the creatures and two-house growths are divided by different organisms, moreover, in the middle of the mind, the number of persons of the human state is approximately more than the number of persons of the woman's state. In other words, to the skin appearance, which can be clearly applied to human and female individuals, the power ratio is 1:1.

Why should the people of human and female individuals lie? How to explain the appearance?

You can suggest that one sublog gives two types of gametes (heterozygous), and another - one (homozygous).

In addition, what type of gametes of a heterozygous state will develop when it is filled with a gamete of a homozygous state, to become a laying ground for developing. The same proposition was made by G. Mendel.

Tsya proposition was confirmed on the cob of the XX century, if T. Morgan and yoga spivrobitniks were able to establish that males and females are distinguished by a set of chromosomes. Chim?

1. Independent practical work of students.Organize an independent work with the materials of the assistant for the search for advice on the delivery of food.

Task 1. Fill in the scheme

Genetics of the state of people

Task 2. Fill in the table

Taxonomic groups organisms	Zygote type		Chromosome states
	female organism	human organism	ova	spermatozoa
Lyudina, savtsі, plasuni, molluscs, Drosophila fly	XX	X Y	X and X	X and Y
Birds, deakі ribi, blizzards	X Y	XX	X and Y	X and X
Straight edge	XX	X O	X and X	X i O
Mile	X O	XX	X i O	X and X

The presence of state chromosomes XX and XY does not only explain the presence of human and female articles, but rather the number of children of both articles.

Against the theoretical background of equivalence, among the boys and girls who are popular, do not guard against a severe 1:1 ratio. call the lads more people, lower girls. For example, for every 100 girls in the middle of the white population, there are 106 boys. In the middle age, there are 103 boys per 100 newborn girls, up to 100 young girls per 100 girls, up to 50 years per 100 women - 85 people, and up to 85 years - less than 50 people per 100 women.

This is the name of the second change in the spivvіdnoshennia of the articles is explained by their different life. Like a person, so a person’s creatures become less stable to unacceptable factors of a superfluous middle, and the triviality of a person’s life is shorter, less women.

A speech by a student about "The appointment of a person's status" (presentation)

Appointment of the status of a person

On the basis of the 40s of the teachings of M.Barr, having revealed the viability of the interphase nuclei of somatic clitins in females and males of the intestines: in the nuclei of the clitins of females, a peculiar chromatin glib was revealed, called the state chromatin, or Bar's body. One X-chromosome is always in the active state and may look great. Insha, as if she were there, I’m in the camp, where to rest, at the sight of the very body of Bar. Therefore, the number of bodies of Bar is one less than the number of X-chromosome preparations, tobto. at the male ( XY ) їх not, and in the female ( XX ) - only one. Such a pattern was characteristic of the savts, the zokrema and the people.

The presence of the state chromatin is easily determined by the method of tracking the epithelial cells in the mucosa of the mucosa. Epithelial clitiny, which are hidden in the zirskribka, are being prepared and looked at under a microscope. Also, it is possible to analyze the chromosomal set of somatic cells, as well as the presence of state chromatin, without interfering with the analysis of the chromosomal set of somatic cells.

For the help of this method, they diagnose in this hour deyakі state anomalies, for example: Klinefelter's syndrome (♂, XXY), Turner syndrome (♀ XO). (Div. presentation ).

Task 3. Task assignment.

1. In humans, the hemophilia gene is linked from the X chromosome. The girl, the father of a haemophiliac, to marry a healthy person. Significance of the health of the people of the sick child of the slave.

2. In humans, the gene for color blindness is linked from the X chromosome. The mother-carrier, that healthy father, was born syn-dalton. What is the imovirnist of the people of the sick child, what is the sin of the future to create with the girl-wearer?

3. The daughter of a color-blind person will marry the son of another color-blind person, moreover, she is named differently in colors normally. Podudovіd dana ї sim'ї ta vznachte, what will be zіr in children? Apparently, the gene for color blindness is transmitted as recessive, linked to the X chromosome of the sign.

4. The retinal part is transmitted through the Y-chromosome. It is possible to distinguish between the phenotypes of children in the form of a mixed-toed person and a normal woman.

5. The proband has normal tooth decay. Yogo's sister has brown teeth. The mother of the proband has brown teeth, the father has normal teeth. Sim sisters of the proband's mother have brown teeth, and two brothers have normal teeth. One titan of the proband on the line of the mother, who has brown teeth, is friends with a man with normal teeth. They have three children: a daughter with blue teeth and a daughter with normal teeth. Two uncles of the proband were mated with women without anomalies in the diseased teeth. One of them has two blue daughters, the other has two blue daughters. Get rid of normal teeth. The proband's mother's mother had brown teeth, and her mother's grandmother had normal teeth. Two brothers of the father on the line of the mother with normal teething. The great-grandmother (mother of the grandfather by the line of the mother) and the great-great-grandmother (the mother of the great-grandmother) had small brown teeth, and their people had little whiter teeth.

Indulge in childbirth, determine the type of signs of decline, the genotype of the proband, and the ability of the people of children with an anomaly in the family of the proband to know how to make friends with a woman heterozygous for this sign.

4. Checking the students. The vikladach reverifies the correctness of the vikonannya task

5. Pіdbitya pіdbagіv. Presentation of ratings from the comments of the vikladach

6. Homework.

This phenomenon, having taken the name of the rule S T Yu A R T A. For example, if the karyotype is 47, XXX, then three X-chromosomes minus one, two more Barr bodies. The presence of state chromatin in humans, as well as the presence of appendage or presence of Barr bodies in females, is characteristic of defects in the system of state chromosomes.

An increase in the number of Y-chromosmes to produce an increase in fluorescent bodies in interphase nuclei, called Y-chromatin.

An express method for assigning state chromatin to the buccal epithelium of the mucous membrane of the scrotum has been developed. Material zіshkriba, otrimaniy for the help of a spatula, transferred to the subject with a 1% acetoarcein, curled up with a curved fold and twisted behind the help of a light microscope.

Vicorist to designate state chromatin for:

• In due course, the status of the virishennі nutrition, schodo spadkovyh zsheplenih zі statyu zahvoryuvan,
• Express-diagnostics of chromosomal ailments associated with damage to the state chromosome complex, ce s. Klinefelter 47, XXI. 48, XXXY, Turner 45, XO, Morris 46, XY - female phenotype, triplo - X - superwoman 47, XXX, disomy behind the Y chromosome 47, XXY. Possibility to reveal mosaicism behind state chromosomes gynandromorphism - XXY/XX appear like, female, and human signs. Descriptions of the most common forms of karyotypes XY/XO, XX/XO, XXX/XO, XX/XXX, three mosaics of XO/XX/XXX.
• Appointment of status in forensic medicine
• In oncology, for the identification of swelling according to state chromatin and the choice of the correct hormonal treatment

The cytogenetic method is used for:

1. diagnostics of chromosomal and genomic diseases
2. breeding of chromosomal and genomic mutations
3. delineation of state in case of impaired state differentiation of the phenotype
4. mating state chromatin

Method of genetics of somatic cells

This method is cultivation, cloning, hybridization and selection of somatic cells. Cloning - otrimanna nashchadkіv (large number of clitins) in the form of one clitin with an additional rose. Cloned cells vicory for the selection of a large number of clitins for chromosomal analysis, identification of the features of the exchange, a large number of mutations, proving the heterogeneity of clitin populations.

Selection in the genetics of somatic cells zastosovuyut for the selection of mutants resistance, auxotrophy. Selection of mutants for the resistance of the bases to their survival in the presence of any lethal factor. Considering auxotrophic clitins of foundations on their powers of victoriousness, to grow strictly singing speech, as they are not synthesized by the clitin.

way hybridization localization of genes in chromosomes is restored. The hybridization is based on the litt of co-cultivated clitins of two different types. Hybrid clitiny or heterokaryons, to sweep the nuclei with chromosome sets of two different species, for example, humans and mice, humans and scours, humans and the Chinese hamster. The genotypes of such clitins are found to be imbalanced, and in case of clitin rozpodіlі heterokaryons, they lose part of the chromosomes. In different hybrid clitins, chromosomes of the same species are used. In hybrid clitins "man-bear" the chromosomes of a human appear step by step. The step loss of human chromosomes can lead to the saving of a single chromosome. Thus, the preservation of human chromosome 9 in the hybrid clitin "human-bear" made it possible to establish that interferon vibrated in the virus clone of the clitin. That was why it was established that there is a valid gene for the synthesis of interferon in chromosomies 9.

Methods of modeling

Two methods have been developed: biological and mathematical modeling. With the help of these methods, there are various tasks that may be important as a development of the theoretical foundations of human genetics, as well as a practical medical and biological consultation.

Biological modeling - tse vikoristannya creatures, yakі mаyut declined anomalies, vіdpovіdnі anomalyії people.

Victory in genetics:

1. Understanding the pathogenesis of spondylitis.

2. development of the methods of their investigation.

Mathematical modeling– Gruntuetsya on vikoristannih computer technologies. For the help of which method they turn:

1. Expansion of mutations in populations for different minds;

2. Influx of experimental evolutionary officials in different populations into the gene pool of the population during the expansion of recessionary pathology.

twin method

Tse sposіb vyvchennya genetic laws on twins. First of all, proponing by F. Galton in 1875. The twin method makes it possible to identify the contribution of genetic (recessionary) and median factors (climate, eating, learning, vihovannya and іn) to the development of specific signs or illness in humans. When using the twin method, a comparison is carried out:

1) monozygotic (identical) twins - MB with dizygotic (dizygotic) twins - DB;

2) partners in monozygotic couples among themselves;

3) data on the analysis of twin selection with the wild population.

Monozygotic twins are established from one zygote, which was divided at the stage of crushing into two (or more) parts. From a genetic point of view, the stench is identical, tobto. may have the same genotypes. Monozygotic twins always have the same status. Wash one placenta.

A special group of middle MBs is composed of non-divine types of twins: two-headed (sound, undead), caspophages ("Siamese twins"). The largest pair of twins are Siamese twins, who were born in 1811. in Siami (ninth Thailand) - Chapg i Eig. Voni lived 63 years, being friends with twin sisters; Chang gave birth to 10, and Yong - 12 children. If Chang died of bronchitis, Yeng died two years later. They were tied with a fabric jumper about 10 cm wide from the sternum to the navel. It was later installed that the jumper, which it received, avenged the liver tissue, which connected two livers. If it were a surgical test to separate the brothers, it would hardly be successful. At this hour, roses and folding ties between twins.

Dizygotic twins develop at that moment, as if at the same time two eggs were filled with spermatozoa. Obviously, dizygotic twins have different genotypes. The stench is like a trio bigger than yourself, lower brothers and sisters, tk. may be close to 50% identical genes.

The overall frequency of birth of twins is about 1%, and it is close to 1/3 of the population of monozygotic twins. It seems that the number of people of monozygotic twins is similar to other populations, just like for dizygotic ones, the figure is different. For example, the United States dizygotic twins are often more often middle blacks, lower whites. In Europe, the frequency of occurrence of dizygotic twins is 8 per 1000 people. However, in other populations there are more of them. The lowest frequency of twin populations is found in Mongolian populations, especially in Japan. Significantly, the frequency of congenital calisthenics in twins, as a rule, is higher than in single people. It is important that the richness is genetically brainwashed. However, it is less true for dizygotic twins. Officials who inject the frequency of the people of twins, they are little born. This data shows that the possibility of the birth of dizygotic twins is promoted by the age of the mother, as well as the ordinal number of the people. Having poured into the mother's eye, it is explained, evenly, to increase the level of gonadotropin, which leads to frequent poliovulation. There are also data on the decrease in the frequency of twins in the future in all industrial countries.

Twin method includes twin zygosity diagnostics IN In this hour of victory, such methods are being developed for: її installation.

1. Polysymptomatic method. Vіn polygaє at the paired paris of twins for zvnіshnіmi signs (shape of brows, nose, lips, external shells, color of hair, eyes thin). Regardless of the obvious clarity, the method is subjective in the singing world and can give pardons.

2. Immunogenetic method. More foldable, vin ґruntuєtsya on the analysis of blood groups, blood serum proteins of leukocyte antigens, sensitivity to phenylthiocarbamide and other. As for both twins, there are no signs of recognition for these signs, they are considered monozygotic.

For monozygotic twins, the similarity for all indications is good.

3. Reliable criterion for zygosity of twins engraftment

shmatochkіv skіri. It has been established that in dizygotic twins such a transplantation will always end in trade, while in monozygotic couples a higher engraftment of transplants is indicated.

4. Dermatoglyphics method polagaє at vyvchennі papіlyarnyh vіzerunkіv fingers, palms and feet. These signs are suvoro individual and change by the protracted life of a person. It’s not out of the question that these showcases are victorious in forensic science and judicial medicine for the recognition of the specialty and the establishment of the fatherhood. The similarity of dermatoglyphic indications in monozygotic twins is significantly higher than in dizygotic twins.

5. Twin method incl. pass the same way by setting up groups of mono- and dizygotic twins for a sign that they are twins.

As if there were a sign zustrichaetsya in both twins in one bet, they are called concordant, if one of them has a pair of twins ov is called discordant(concordance - steps of similarity, discordance - step of separation).

When stating mono- and dizygotic twins, the coefficient of pair concordance is determined, which indicates the proportion of twin pairs. in some signs, which are twisted, manifested in both partners. The coefficient of concordance (K p) is shown in parts of one and two hundred and is determined by the formula:

Kp = C \ C + D de C - the number of concordant pairs. D is the number of discordant pairs.

Possibility of paired concordance in mono- and dizygotic twins gives evidence about the spontaneity of the role of recession and the middle in the development of these and other signs of either illness. In this case, it should be noted that the degree of concordance is significantly higher in monozygotic twins, lower in dizygotic twins, as a fall factor and may have a dominant role in the development of signs.

Although the value of the coefficient of concordance is approximately close in monozygotic and dizygotic twins, it is important that the development of signs is assigned the leading rank by non-genetic factors, tobto. minds of the middle.

As far as the development of the pre-existing sign takes the fate of both genetic and non-genetic officials, then monozygotic twins are afraid of intra-pair differences. With this difference, mono- and dizygotic twins will change after the degree of concordance. In this mood, it is important that before the development there are signs of a recession.

For a calculus assessment of the role of recession and the middle ground in the development of these and other signs of vicariousness, different formulas.

Most often, they are valued by the coefficient of decline, which is calculated according to the following formula:

H = KMB - KDB(for singles) or (for parts of one),

de N - coefficient of decline. K - coefficient of pair concordance in the group of monozygotic (MB) or dizygotic (DB) twins.

It is important to judge the impact of genetic and median factors on the development of signs. For example, since the value of H is close to 0, it is important that the development of signs is conditioned only by factors of the outer environment. With a value of H in 1 to 0.7, the recession factor may be dominant in the development of signs of ailment - blood groups, color of eyes, Rhesus factor, and the average value of H in 0.4 to 0.7 to indicate those signs develops under the influence of officials of dovkill for the obviousness of genetic strength.

For example, the concordance of MB for contagion to schizophrenia is 70%, and for DB it is 13%. Calculated using the formula H = KMB - KDB / 100 - KDB = 70 -13 \ 100 - 13 = 0.65 or 65%. At times, the genetic officials are overwhelmed, and the mind of the middle people play the same role.

In addition to the twin method, the significance of the genotype and middle in the pathogenesis of infectious diseases was revealed. Thus, in case of infection with TB and cough, the infection factor may be significant, and in case of tuberculosis infection, the original genotype may be affected. Follow-up, how to be carried out on twins, help with advice on the such nutrition as: an influx of recessive and middle factors on the trivality of a person's life, the development of talent, sensitivity to medicinal preparations. Clinical pharmacology has nothing better effective method method for evaluating new drug preparations and treatment regimens, lowering the therapeutic results on identical twins. Also evaluate the effectiveness of various pedagogical approaches in the process of training.

Biochemical methods

Biochemical indications show that the disease is more adequate, lower clinical symptoms. Qi method of directing the manifestation of the biochemical phenotype of the organism. We should play a role in the diagnosis of monogenic recessive ailments. The principles of biochemical diagnostics changed at different stages of the development of genetics:

• up to the 50s of the rokіv - shukali metabolites in the section (alkaptonuria, phenylketonuria);
• 50-70-i - manifestation of enzymopathies and metabolites;
• from the 70s - squirrels.

None of these objects are the subject of biochemical investigations.

Since there are a lot of biochemical methods, this is due to the fact that the whole system is to blame for this - the circuit will be on:

· clinical pictures ailments;

· Genealogical records;

· Gradual exclusion of singing classes of ailments (pros_yuvalny method).

Biochemical methods and rich-study parts.

Objects of biochemical studies:

ü plasma and blood serum;

ü forms of blood elements;

ü culture clitin (fibroblasts, lymphocytes).

When vikoristanny simple method in biochemical diagnostics see equal: first and clarifying.

Meta primary diagnosis- Identification of healthy individuals and selection of individuals for further diagnostics. At this stage, victorious slashing is a small amount of blood.

The programs of primary biochemical diagnostics are mass and selective.

The number of Barr's body in the nuclei of somatic cells in the obese woman is zero, put the correct diagnosis:

Shereshevsky-Turner syndrome 45 X0;

Legien's syndrome;

Poly – X – syndrome 48, ХХХХ;

Klinefelter syndrome 47, XXY;

Down syndrome, 47, XX, G+.

Cytological analysis showed that 80% of the nuclei of the somatic cells of the female body can resist 2 Barr's bodies. Put the correct diagnosis:

Poly-X-syndrome 48, XXXX;

Trisomy X - chromosome 47, XXX;

Monosomy for the X chromosome;

Klinefelter's syndrome;

Legien's syndrome.

With luminescent-microscopic analysis of somatic cells of a person, the following was revealed in the nuclei: 2 brightly luminous cells of U-chromatin. Put the correct diagnosis:

Down syndrome;

Edwards syndrome;

Double - U - syndrome;

Shereshevsky-Turner syndrome;

Wolf Syndrome.

Cytological examination of the buccal epithelium of women revealed: 75% of the nuclei can be found in one Barr body, 25% - not in a Barr body. Enter the correct karyotype:

46,XX - norm;

47,XXX - trisomy on the X chromosome;

45, X0 - Shereshevsky-Turner syndrome;

48,XXXX poly-X syndrome;

In case of cytological analysis of the buccal epithelium of humans, 90% of the nuclei do not contain the Barr body, indicate the correct karyotype:

Zhodna z vishchezgadanikh vіdpovіdey.

With a cytological study of the buccal epithelium of humans, 79% may have one body of Barr. Enter the correct karyotype:

Zhodna z vishchezgadanikh vіdpovіdey.

Cytological analysis of the buccal epithelium of a woman revealed: 70% of the nuclei can be found in 2 Barr bodies, 21% - in 1 Barr body, 9% - not in Barr bodies. Put the correct diagnosis:

47, XXX - Poly-X - syndrome (trisomy);

46,XX - norm;

45 XO - Shereshevsky-Turner syndrome;

48, XXXX- Poly-X - syndrome (tetrasomy);

The number of Barr's body in the nuclei of somatic clitins in an obese woman is older than two, put the correct diagnosis:

47, XXX - Poly - X - syndrome (trisomy);

48, XXXX - Poly - X - syndrome (tetrasomy);

46, XX - norm;

45, XO - Shereshevsky-Terener syndrome;

Zhodne z vyshchezgadanikh ill.

The number of Barr's bodies in the nuclei of somatic clitins in an obese woman is two years old, indicate the correct karyotype.