Mosaicism is the appearance in one organism of lineage with a different chromosome set. In most cases of mosaicism, there are few chromosomes and a few paucity of chromosomes when one hour of chromosome breakdown occurs at an early stage of embryogenesis. With normal mitosis, the chromosomes will fight, and the skin will be removed as a result of the result. Vinicism mosaicism in case of unreacted chromosomes or destruction of the migration to the poles of cellini (anaphase lag). As a rule, if there is a larger part of a clitin with an abnormal chromosome set, then more and more turns are an abnormal phenotype. He has his own mother, which earlier in the process of embryonic development of vinicism, mosaicism, has a part of klin with an abnormal chromosomal set more.

66. What is the reason for Himeriam?

The word "chimera" is taken from the walnut mythology. Homer described the tse of Kazkov's іstota with the head of the left, the tіl of a goat and the tail of a dragon. Cytogenetics call chemism the appearance in one and the same organism, two or more lineages, which resemble those of other zygotes. Most often the chemistry of the family is in common with the reduction of the blood cells of the young women of the twins. Into a whole lot of chimeras! organism small karyotype 46, xx / 46, xy. The reason for chimerism can be and drink the clin of an undead twin to a literary one. Rіdshe maє mіsce incorporation of two zygotes into one embryo.

KEY MOMENTS: RIZIK OF REPEATED SPLIT DEFECTS

Yakshho Chromosomal mosaicism, chimeriama є obєbatkiv, risky repetition of the road 25%.

The number of ill children who are already obvious at the tribute of the batkiv bet is not enough. So like the dermal process of the embryo in the organism of the woman, as well as of the fertile females, including the postponing, the transfer of the postponed egg through the oviduct, the implantation into the mother of the uterus, the fertility of the fertility end with canopies.

Rizik of Duchenne amyotrophy in a child with a mother - 25%. Spadkovі ill health. Amplified by chromosomal or genetic mutations, which are manifested in broken exchange of words or development (for example, Khvoroba Down, phenylketonuria).

All ailments with Down's syndrome have a karyotype that prevents the falloff translocation of the 21st chromosome, so that they are supervised by the high risk of re-population of the ailing child.

67. What kind of risky transmission of a recessively sedated affliction, like a father or two, or a third or third brother or sister?

Two brothers and sisters can be more than one recessively sedated grievance. They have 1/8 of the genes identical, so the child is homozygous for 1/16 of the gene loci. Three-year brothers and sisters are identical to 1/32 of generations. Rizik of a national child with an important or fatal recessionary defect in two-year-old sisters and brothers, 6%, three-year sisters and brother - 1%.

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essay

from biology

By topic: Statements of chromosomes. chromosomal mosaicism

Mammadli Kyana

The term "chromosome" was first pro-proponated by V. Valdeyer in 1888, which was intensively farmed by the main barriers in the process of mitotic podil. The larger report of the study and the description of the chromosomes was tied to the indications of the mitotic subtype of the plant to the presenters of R. Russov (1871), I. D. Chistyakov (1873), E. Meisel (1873), E. Strasburger (1879) and I. Nezposerednaya vivchennya and zamalivaniye of chromosomes from living material was built earlier, and in 1848 itself, with a prelude to a nice botanist V. Hofmeister, a file of tradescanning.

The vivification of the chromosomes of humans began to grow from the work of V. Flemming (1882);

All the signs of people are recorded behind an additional genetic code in the macromolecular structure of DNA. Dovga DNA molecule, to avenge a multi-line group of genes, is called a chromosome. The skin chromosome can avenge one uninterrupted DNA molecule, the original storehouse and can transmit only tricked down information. The bosses of the classics, as well as the modern methods, have shown the versatility of the genetically folded sedated ones, which can be found in viruses, roslin and tvarin. The rules for the number, pairing, individuality and non-interruption of chromosomes, the folding behavior of chromosomes in mitosis and meiosis have long been overtaken by the ages in the fact that chromosomes play a great biological role and reduce the direct transmission of power. The chromosomal type (karyotype) of humans includes 22 pairs of autosomes and 2 status XX (in females) or XY (in cholovikiv) - chromosomes. The role of chromosomes in the transmission of decay information has been clarified by the following:

1) detection of genetic status value;

2) the establishment of groups of signs, related to the number of chromosomes;

3) induce genetic and cytological maps of chromosomes.

Seemingly, chromosomes should become one homologous pair, altogether one to one, but it is justly deprived of autosomes. The status of chromosomes, or heterochromosomes, can be strongly differentiated both by morphology and by the way they have genetic information. The addition of the state chromosomes in the zygote means that it becomes a possible organism. Great z chromosomes of the wager chain is accepted as the X-chromosome, the mensh of the Y-chromosome.

In all somatic cells, including humans, in Drosophila and Bagatoch, the other species of creatures, female individuals in somatic cells may have two X chromosomes, and cholovichy - X- and Y-chromosomes. In all organisms in all egg cells, the X chromosomes are replaced, and in general all of the same. Spermatozoa they have two types: one is the X-chromosome, and the other is the Y-chromosome;

1. Eggclinine, to avenge the X-chromosome, is delayed by spermatozoa also from the X-chromosome. In the zygote, two X-chromosomes are developed, with such a zygote a zygote develops.

2. Eggclinine, which is to avenge the X chromosome, become sperm, which does not carry the Y chromosome. In the zygote, the X- and Y-chromosomes are united, with such a zygote the human organism develops.

Gender, which can offend the same state chromosomes (2A + XX), is called homogametic, so as all gametes are the same, so as all gametes are the same, and the log with growing statute chromosomes (2A + XY), two types are called ... The yak is guessed at the human, the heterogametic heads, and the homogametic women.

In this hour, it has been established that all organisms become visibly recessive factors and deteriorate at the moment of gamete anguish. One vignette is to become the sea worm Bonnel, which will become a sign of the middle class. Yogo female has a size of draining from a large trunk, males and microscopic growths. From Bonnel eggs, larvae develop, as with the same success they can become both females and males. As soon as the larva sits on the trunk up to the female, then when the hormones go on, it is seen by the female, it will transform into a male, or if the larva does not develop into a female, then it will itself migrate to the female.

Mutations are the changes that have come to light in the genetic information of the clitini. There are three types of mutations:

1. Genome - mutations, the number of whole chromosomes in the genome

2. Chromosomal - mutations, where dilanoks are located in the middle of the same chromosome

3. Gennii - mutations, which occur in the middle of one gene

One of the types of genomic mutation is discernible - Chromosomal mosaicism.

Mosaicism is a pathological form of combining different genetic materials. Naybils often form mosaicism to provoke mutations and flow into the cell. The reasons for this pathology are even more flexible, and the reasons are for lack of vaccination. Whether it is a mutation, mosaicism can be a mother of inherited inheritance, so that it can be found in one form. It is necessary to understand how the pathology is to reach the child, how to develop, and even to the knowledgeable inheritance.

Mosaicism can be traced back to France and the basis of the word mosaic. View of the Latin "musivum", which is meant for the muses. Such a phenomenon is formed when two different species of genes are present in cells, cells of a different genotype. From the mythology є a part of such a thing, to be called a chimera and selected from a few small creatures. The whole image is a prototype of mosaicism, which resembles decile genotypes.

Mosaicism can be found in statues of cells, with an inflow of unwelcoming factors on them. With a lot of mutation, it will happen randomly, destroying the tradition of Mendelivska's time. Until then, the pathology does not appear in all children of ailing fathers, but vibirkovo. Somatic chromosomes can also give rise to mosaicism, albeit not transmitted to generations, some somatic chromosomes are not carried by gene information for generations, the stench is infused into the life of their wear when they manifest. Mosaicism of chromosomal extensions in case of abnormal pathologies of state chromosomes. With a whole lot of his own surroundings, there are signs of dear musical illnesses. chromosome mosaicism genomic mutation

Reasons. The reasons for mosaicism are dependent on their negative inheritance or inheritance. For the sake of intelligence, it is necessary to have an elementary knowledge of the molecular biology and differentiation of the cellin family. Genetic mosaicism can rarely manifest itself in case of meiosis, rozpodil, and even before the formation of haploid, so that it is quiet and half the number of clitin. At the same time, it is necessary to learn more about the material in the first cycle of the day, and not to see it in the offensive. In some cases, there can be significant changes in meiosis from the phases of meiosis, leading to a pathological subtype of clitin.

The reasons for mutations, which lead to mosaicism, can be simple, in the middle there are very long calls, and all kinds of changes, and injecting mutagens. As the mutation occurs at the stage of the zygote, as the angry cells on the fruit, and if in the state chromosomes, then injected can be on all children. However, prophase meiosis does not end with problems in the appearance of problems with rozpodil, with a lack of chromosomes, there are also cases that lead to other forms of pathology. Also, the wrong chromosomes are generated in the cell nucleus, which is also the reason for the formation of the cell.

At the same time, every hour of progression of mutations, mosaicism can take over all the fruit, and can take away from one of the germinal leaves. Tobto vilify liche ecto-, meso- or endoderm. Tse is produced in a small place before mosaicism emerges only from all appointees from that leaf.

Placental mosaicism is formed in the fall of the trisomy zygote for one of the pairs of chromosomes, if that pair is consumed. The price is called aneuploidia, fragments of chromosomes are not a multiple of the haploid set. During the whole period of trisomy, the part of the clitin, with the corrected pardons, became normal, and the part of the gut. Before the trophoblast, there is a set of chromosomes to help the fetus live.

Symptoms. There are few typical symptoms for mosaicism, the stench is versatile and very variable in the form of mutations and have become aware of a cytokine. The stench can turn around in the versatile chromosomal impairments, or they will be absolutely not shy.

Likuvannya. Mosaic pathology is nevilikovny due to a species-specific genotype, but it is all the same to polish a lot of symptoms in a possible and robust way. It is important to understand that such fathers need to be kept in check by genetics and such pathologies to get ahead of the other cabinets of the family plan, in case of the apparent problems with one child.

Mosaicism of chromosomes can be found in its structure without genetic syndromes. Mosaic Klinefelter's syndrome occurs in choloviks, as a rule it appears weaker than the secondary form of ailment. At the same time, they have a fight, and only once and the X chromosome will be built, which is not very feminine, without problems in part of the person's health. Hermaphrodite is also an infinitely small mosaic nature and is manifested to the children of the child with the symbols of the articles, for example, the internal articles of the organisms, and the outgoing women. They are very uncomfortable and unfriendly. Shereshevsky-Turner syndrome manifests itself in females with a zero X chromosome і і veda to without, during the daytime swelling of secondary statues і folds on the neck. The mosaic form of Down's syndrome is also more lighter than its own twin-brother, and there are some symptoms: galvanization of development, special kind of vigilance, additional pathologies of internal organs. The design of musical forms is not difficult, the fragments will need to look over more than one sheet. Show the same variation from the level of gene penetrance. In addition, there are statutory genetic syndromes and healthy people, without transient forms, as there are high chances of mothers offspring.

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As soon as you think that all your cells have the same genome for your body, it’s time for you to rozcharuvati. Є Imovirnіst, іnіdivіduum years і shukati і two clines with an increase in identical DNA. I’ll block the chimos, which is why I’m using entusiasm to develop mosaicism, and how to build up the maybutn’s region’s views, the forerunner of genomic varia- tions from laboratories at Klinitsi Mayo ( Mayo Clinic), Chiya group recently published a new article on this topic?

In the body of an adult, there are approximately 10 14 cells of two hundred young types. For a long time ago, it was important that the genomes of all the clines are the same, and the evidence in their particulars and functions begins with a set of "good" genes. However, it is not so simple to look at the first glance. In state cells, the number of chromosomes is halved, and the genome immune cells There is a change in the flow of V (D) J-recombination, in order to induce the depletion of variable immunoglobulin B-lymphocytes and T-cell receptors on T-lymphocytes.

Infection, however, will appear with a more radical declaration. It is possible, from a hundred trillions of cells to marriage, and two more with the same genome - through mutations, which accumulates in embryogenesis and extending life to the organism.

I would like, in general, to replicate the DNA with a high accuracy, polymerase only to be merciful and to insert either the wrong nucleotide, or the wrong number. The frequency of such pardons is approximately one per skin 100,000 nucleotides. Nachebto the number is not a great one, ale just think, a few pardons for our majestic genome! Fortunately, there are many of these defects that can be corrected for the neat processes of DNA repair systems. Ale deyakі pomilki replicacii all the same hang out in view and become permanent mutations.

For minimal estimates, only single nucleotide substitutions for the entire genome of a healthy individual will appear more than 10 16. In addition, the variability of the genome of the indels) Above options for copies of generations ( CNV). How many mutations are there in one person? It looks like the figure is just great.

Well, does the genetic material of all cells grow into organisms, and does the skin cells play a role of a close puzzle in the outlying picture of the genome? І dermal lyudin genetically "mosaic"? To walk, well, it’s not normal, but the very word “ mosaicism"- fatigue scientific terms. Traditionally, there is reason for it to develop in the middle of one organism, as there is a minimum of two lineages with a different genome, so that both the middle somatic and the middle of the embryonic cells develop (Fig. 1).

Malunok 1. So is it mosaicism? In a population of normal cells ( with green kernels) To see how it’s going to mutation in one client, now she’s schematically chervone core... Through a number of cycles of the population's time, it is possible to build up on areas of mutations of cells and normal cells, which can be seen to work like a mosaic.

If I want to live a richly clitinous organism and to reclaim from one cell, mutations creep into the DNA from the very first piles of DNA. To navigate at the appearance of a newcomer to the world is already a genetic mosaic - it doesn’t seem like it’s about a grown-up man.

« Already, with the population mutations in the skin cells, it is even more abundant - moreover, there are some new mutations that appeared in the process of preimplantation and embryogenesis, and so and, - development of "biomolecules" Oleksiy Abizov, fahivets of genomic variations from Klinika Mayo. - The creation of an individual "mosaic" - the essence of all musical changes to the genome of people around people - is not a simple scientific interest, but an outrageous demand. Such information can be more beautiful than the intelligence and the health of the surrounding individual, and, you can, you can find the knowledge of the situation in the clinical practice».

Vipusknik MFTІ, D.F.-M. D., from 2014 rock science laboratory in Klinitsi Mayo, assistant professor in the medical college at Klinitsi Mayo, inquiries professor at the University of Minnesota and Alskiy University. Specialize in genomic variations (zokrem, mosaicism) and the connection with the ailments of people.

Vibrant publications:

• (Science, 2018);
• (Science 2017);
• (Genome Res 2017);
• Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells, (Nature, 2012);
• Genomic Mosaicism in Neurons and Other Cell Types (Humana Press 2017).

Mosaicity is unique for the skin - and often it is important that the result is not transferred. You can show yourself to lie down among the powerless factors, which are less clear and understandable, having respected the idea of ​​mosaicism in embryogenesis and having talked about mosaicism in an older organism.

Mosaicism of manifestations in the bagatokh are the first species of creatures, like people. On the other hand, the butt to mosaicism is the effect of the heterochromia of the ridge of the eyes (Fig. 2).

Malunok 2. Heterochromia of ryaduzhka in deyaky vypadki vinyk itself through mosaicism. Buvah won і for people, and for creatures. On the smallest of representations of the variety of heterochromia, if the color of the eyes grows.

Vitoki vivchennya to mosaicism: folk concept

The epoch of a lasting manifestation was thought to be more than 120 years ago - back to the opening of DNA. The very concept of mosaicism (without the introduction of the term) in 1895 was proponated by Alfred Blashko when discussing the appearance of a linseed epidermal nevus (congenital fabulous pictorial beaches, Crumbs of vistupaє over the shkіroy і twisted in the line) і sov. lіnіy Blashko, yak, yak don’t zdogadatsya, was named after him. Those who are renowned as a dermatologist are not marvelous: the shkira is a definite and easily accessible organ for a preschool age, - the first and foremost colleagues have been actively injecting variations of the genome of klin shkiri.

The term itself was proponated by the Nimetsian zoologist Valentin khaikeri in 1904 when the description of the "mosaic-like rozpodil" characteristics small parts tila. The genetics of roslin and zoologists in the offensive rock vikoristovuvuyutsya interchangeable terms "mosaic" and "sectoral chemistry".

Dermatologists let the robot of Alfred Blashko safely go to sleep: the clues were found in two Dutch handcuffs, one of which was transferred to Nimetsky. About the presenter, they knew a leash in the 70s. Robert Jackson and Rudolph Heppl just one form of one in 1976 worked on his robot and the line of Blashko, and the other proponuted to tie the idea of ​​activating the X chromosome in embryogenesis. The unpretentious idea of ​​mosaicism has gone into the professional life of dermatologists.

In 1983, with the development of technology, Juan Hemke ( Juan chemke) With colleagues, having pushed the mosaic form of trisomy 18, with which part of the cell, two 18 chromosomes are replaced, and the part - three. Piznishe mosaicism of fixes in children shkіrnyh ailing.

The infection of mosaicism continues to grow actively, and it is not only the applied interest with the keru nauk. " For a long time there has been a sense of intelligence, so mosaicity may be fundamental to the understanding of what is our practical body. Alee vivchennya tsyogo process, except for the obvious put to health, is a natural scientific interest. Vivchati Mosaicism of Klitini, the Central Idea of ​​Life", - Oleksiy Abizov continues.

Does the name come from somatic mosaicism?

In the appearance of somatic mosaicism in normal cells, there can be “winnie” such molecular mechanisms:

What are the structural options for mosaicism?

• SNV(Single Nucleotide Variant) - single nucleotide options, if one nucleotide is added in the singular position.
• Indels (in sertion or del etion) - a short insertion in the genome.
• MEI (Mobile Element Insertion) - insertion of retrotransposons into the genome, in humans ALU, LINE1, HERV and SVA.
• CNA (Copy number alteration) - the chromosome is overused, if a part of the genome appears from a larger or smaller number of copies in some cases with the same genomic regions in the same object. The term is often used to describe large-scale somatic changes in the genome, or it can be stored before being varied, which is more indels.
• LOH (Loss of Heterozygocity) - loss of heterozygosity. The loss of one variant of a gene in the same genome, which in the norm is heterozygous, to substitute two variants of one gene.
• inversion- the chromosome is perebudova, if the genome dilenome is turned over by 180 degrees.
• translocation- regrouping, as we lead to the DNA of two chromosomes.
• chromosomal aneuploidia- Change of number of copies of chromosomes and shoulders.
• Multiploidia- a global change of fertility to the genome.

Malunok 3. Genetic variations in the organisms of people - what is the origin of this money? Chervona horizontal arrow per baby - the time scale from zygotes to death. Bichni enter shooters- accumulation of different options through the stretching of life: options for the germinal lineage ( Gv), Options de novo (DNV), Post-political options ( PZV) I microchimerism, explicitness small amount klin from the organism, ( MC). Bіchnі vііdnі shooters- processes that lead to a change in genetic rozkidu: revertant - zorotny - mosaicism ( RM), If a cell turns into a normal state through a reverse mutation of a pathological variant / mutation, and a change in a cell with genetic variants ( CD). At the same time, the number of genetic changes in the somatic cells can be recorded by the advancing rivals: SUM = GV + DNVs + PZV + MC - RM - CD. More details about GWAS are given in the section “ Classical heritage of folk art: mosaicism - is it good?».

Mosaicism in embryogenesis - how do we see it?

Serious chromosomal abnormalities early stages Embryogenesis in humans is even more frequent. However, the reason is that it’s because it’s fast to see, to end up being bounded. The preliminaries were carried out on healthy mice, and the accumulation of mutations and additions of the mice in the differentiated tissue of the growth of the animal was evaluated. However, unfortunately, it is not possible to simply take and transfer the tribute to the people: the stench does not get lost. So, shvidkosty as mutations of the germ line, as well as somatic mutations are meaningfully seen in mies, not in humans.

Happily, with the advent of new technologies, everything is simpler. For example, the British representatives are literally the first days of the development of the human embryo from the CRISPR-Cas9 studies. It is possible, in the closest maybut, to appear more accurate data and for the rapid accumulation of mutations in the human embryo genesis. It is not possible to forget, but not so many dozen (50-100) mutations of statutory cells and fathers are transmitted (Fig. 4). Yak bulo is shown in the analysis of genomes of 78 families from two fathers and children, in one generation the average rate of mutations de novo to become 1.20 × 10 -8 per nucleotide, and the number of nucleotides in the skin cells, for a second, 3 milliardi.

What do I know at once? Mosaicism is not a common phenomenon at the stage of preimplantation. At the end of the day, whether the mutation is a good one, there is a significant flow to the whole organism: the singing mosaic genotype can potentially appear in the bagatokh cells. In addition, at the stage of preimplantation, the frequency of mosaicity fluctuates - it is accepted, so to show the pre-emptiness of the embryos, which have gone beyond the extra-piece delay (perhaps, with the natural conception of the process, the process of blowing a troch of anxiety). Є a brew, which can be explained by the natural selection of against the musical membrane in the fallowness of a number of aneuploid cells in the new one. (Qia and іnshi models - for little 5.)

Malunok 5. As a rule, up to the last bit of embryos, which are folded after a piece delay, the frequency of mosaicity decreases from the stage of crushed to the stage of blastocyst, and the number of models will explain why it is so. evil... Natural change against musical membranes can lead to death to a fetus at the place of a part of aneopoly clines in New York. In the center. The model of "clonal hanging" includes apoptosis or a decrease in the broadening of a part of aneuploid cells in musical membranes. On right. Nareshty, the third model, describes the mechanisms that, in addition to those in monosomy and trisomy of aneuploid cells, can occur during the growth of cells with a normal number of chromosomes.

At the first day of the membrane development, according to the deyakim estimates, three mutations for one cell are brought into the skin with the replacement of nucleotide bases. With a large number of cells at a number of stages, they often vary asymmetrically and, apparently, make additional additions to customer warehouse in a larger mature body.

The emergence of genomic variants at greater and lower stages of the evolution to mosaicism, surrounded by the singing area of ​​til. Yak show a lot of dosage, the frequency of somatic mutations is significant, not in the cells of the germinal line.

Classical heritage of folk art: mosaicism - is it good?

We have already grown up, but mosaicism is a natural and broader manifestation in human organism. Ale how are you inherited?

The yak has already been guessed, it’s worth to lay down all the powerless factors. Bagato classic inheritance of mosaicity is important to "evil" and explain. In addition, it is important to determine the breadth and number of cells from the singular variation of the genome.

Є pretense, in some cases somatic mosaicism can play into the hands of the body. For example, the frequency of mosaicity in neurons at the edge of the temporalis. The basic theory is that there is a special evolutionary mechanism in order to open up the development of neurons and, most importantly, the urgency of their functions (report on mosaic readiness in the brain.)

The first butt is the whole polyploidy of hepatocytes in the liver in older people. If creatures want to see more of them, not in roslin, but all the same, they have cells with a superbly large number of chromosomes. Deyaka number of polyploid liver cells is established during development of the liver in embryogenesis. Protect in vikom and in case of manifestation of ailments, to produce until the liver regeneration and regeneration, the expansion of polyploid hepatocytes grows - importantly in the pericentral zones of the hepatocytes. Prescribers allow, that such a genotype can appear brown, fragments of the old copy of the DNA code, and additional copies of the genes can help to avoid the inheritance of mutations in the function.

However, in a large variety of mosaicism, it is associated with obviously negative traces. Yoho it is easy to tie with the wikidin drops, the appearance of inborn defects, the dressing up and the development of the development. Zokrema, on mosaic trisomy 21 seizures 2-4% in cases of Down's syndrome. For every type of trisomy, show a syndrome, tying with with a backbone organism and intellectual health, in the times of mosaicism, there can be a turn of myaxe. Mosaic syndrome of Shereshevsky-Turner, as well as mosaic monosomy on the X-chromosome, may appear less important, less its form. Another butt of broken mosaic form - tse McCune-Albright syndrome, dressings with an embryonic potentially lethal mutation in the gene GNAS1... Proteus syndrome can be caused by early mosaic mutations in oncogenes. AKT1, Yakі zaluchenі before the formation of solid fluff.

Embryonic mosaic mutations in genes IDH1і IDH2 to tie with Olyer's ailment and Maffucci syndrome. Early mosaic mutations in genes HRAS, KRASі NRAS identified with the syndrome of nevus of sebaceous lobes ( nevus sebaceous), Schimmelpenning Syndrome and Keratinocytic Epidermal Nevus Syndrome.

It is not safe to see that there is a lot of mutation in the cells with great potential until the end, it is not only in embryogenesis. Somatic genome variations accumulate stretching out the life of the people... Mosaicism of human organs, for example, the brain and shkiri, and also vivchuyut a few groups of people (the reports are about the following). Shvidkostі accumulated mutations, as it has already been said vishche, vimіrаnі in Misha and some types of clitin people. However, the technical methods have not yet been thoroughly understood, and the food needs to be taken into account, but the people have grown up - a mosaic, while it is important.

Protest, even into the distance of the ringing of the deyaki of the type of clerical mosaicism and the health of the grown-up people. The withers, they were stitched, like the daughter of the stovbrovyh clines of the grown-up people, they will calm down the not safe snares of the genome of their peers. The process of accumulation of genetic mutations in cich cells will lead to the processes of aging, growing sickness and oncological diseases. Information about the links of more frequent mosaicism in the summer season has already been selected by Chimalo. A recent release, which included an analysis of the genome of a maximum of 130,000 people, once again confirmed that the frequency of mosaicism is improved among older people - especially among people (read about gender inconsistency in the urnation).

Mabut, is also one of the most recent classic heritage of mosaicism - the whole link with the development of cancer. Little information has been accumulated on this topic, and there is still a lack of information. So, until the end, it is not clear: cancer is the price of patches of mosaicity, for those with cancer have more musical cells or more mutations per cell.

In one of the last days we analyzed material from 31,717 patients with cancer and 26,136 healthy people without one. The stench gained such strength-strong from 13 robots from victorious people. genome-wide association studies). Tsey method of additional help different options genіv and їх phenotypic manifestations. Mosaic anomalies occurred more often in patients with older puffins, and the sounds were stronger, as they were taken for analysis before the diagnosis was made and the ear of the drink was taken. Clonal mosaicism has emerged as a wicked phenomenon for the quiet, whose DNA was taken for the ric before the diagnosis of "leukemia" was made - in the case of people without cancer. Somatic mosaicism by mutations in the gene HRAS people have dressings with urothelial crayfish.

Gender ineptitude: this kind of mosaicism

It is not surprising that mosaicism can manifest itself in women and children in a different way. For example, mosaicism of the X-chromosome is developed in most cases, not autosomal mosaicism.

However, from the point of view of the vcheny mutation on the basis of the number of chromosomes Y - especially if it is involved. It is no secret that people live less, less women, and find themselves in rosy lands with a good health protection system. However, there is no clear reason why it is so perceived. Help from a virgin nutrition can be LOY - a mosaic inlet of the Y-chromosome, which can be observed in a skinned person older than 70 years in some cells.

It has been shown that LOY in blood cells often appears in chickens, less in nonsmokers, and that it is a dose-dependent mutagenic effect on the cellin genome.

Moreover, they showed that LOY can play a role in the pathogenesis of rare autoimmune diseases in choloviks. The development of Alzheimer's ailments, disease-free types of cancer (for example, anterior swelling, intestine, prostate and sectional mikhura) І mortality for all reasons.

Mosaicism of okremikh organs

Clients of all organs of the adult population are without blame for their mother's mosaic genome. Deyakі from them vchenі vivchayut more saw - for example, cells of the brain and shkіri. About those, how it became to us from such robots, mi and let's talk below.

mosaic brain

For the development of mosaicity, the brain is one of the most common organs, fragments of neurons to live in some of the most common types of cells. Mabut, їх mosaicity is even more frequent, і, it’s better for everything, the genome of the neuron taken from the neuron is seen from the cells that need it (on "biomolecules" was sent by a special one on the same topic). It has already been accumulated and mutations have accumulated in the brain, which develop to the nation. For the whole vchenі vikoristovuyt method of vycheniya single neurons.

The midst of the development of mutations is called, for example, the presence of strong radicals, and electromagnetism, and the migration of transposon. Frequency of aneuploid and retrotransposis in neurons to see through, but not in other pretransported tissues.

Yak bulo guessed vishche, temporal frequency mosaicity in nerve cells to create great flexibility and, it is possible, to create a visitor's evolutionary function. Mosaicism of neurons can be infused into the strength of people to the point of ailments in the frivolous life. Zokrema, dreamers call cancer, Defects in the development of the brain, epilepsy. The result of all the deprivation of one changed nucleotide is the whole constitutive activation of the gene AKT2 and the further development of an important form of megaencephaly from the epilepsy.

It infects actively the connections to the mosaicism of neurons and psychiatric disorders. Tse to complete a foldable zavdannya: it’s a lot to think about the ailments themselves, and about their genetic warehouse. For reasons of the National Institute of Mental Health (NIMH) initiative of the USA, a special project , For the yakomog shvidshe to correct the information on the topic (fig. 6).

Malunok 6. Kintseviy genome of one neuron molds all those changes that were discussed in the urizanny "Somatic mosaicism is taken": sprouts, all single nucleus variants ( SNV), Insertion-Deletions ( indel), Structural options CNV, Retro element type L1... The project is based on the Brain Somatic Mosaicism Network - to link the options to their numerical potential inheritances, which are in the boundaries of the norms, as well as to the associated ones.

Genome mutations were transferred to cells in the brain of the embryo. For the whole family, clonal colonies were made from single neural protrusions. So, mutations, present at the frontline clientele, will be found in all the clientele grown from her colony, and, moreover, they can easily be introduced to the sequenced colonies.

However, the sequencing of the designation and all the assumptions of the options. We carried out a test of the genomes of the colonies that were grown from the cells of one and the same membrane. As a result, it was found that in the middle of the vaginosity in one cell in the brain of the embryo there were nearly 400 single nucleotide variants of SNV. If I want such a result in such a world, I will be able to find out, with a great deal of Ukrainian importance: it has not been demonstrated in the past.

Distant, behind the out-of-the-way mutations in the small cells of one, the brains got into a spore of cich cells (tobot they were dying, in some boules, out-of-the-way clerks-great-grandmothers), and they revived the tree of the first five crushed zygotes. Our laboratory is persha, in detail to create a picture of the crushing of people. Earlier, they used to eat only mishas. During the whole analysis of mutations, the crushed mites were victorious. When crushed into the skin, new cells appear in the middle for one new mutation-mitts. At the same time, with the latest data, the price tag allows even more precisely the importance of history at the early stage of the development of the embryo.

Nareshty, we have shown that the rate of mutagenesis and the type of accumulation of mutations occur during fragmentation and neurogenesis. Hopefully it didn’t come as a surprise to us, the price is extremely important.

,
Head of Science Laboratory at Clinic Mayo,
about my neurogenesis robot,
published in Science .

Klapteva carpet of shkirnogo mosaicism

Yak has already been guessed in the history of production, shkіrnykh pokriva. « The head of the change is that it is easy to get rid of it, - Oleksiy Abizov talked about the robots of his laboratory. - We were able to treat small fibroblasts, some of the stench was easily accessible, and they learned the methods of their training, viralization and reprogramming. I know, the methods were broken through the easy accessibility of fibroblasts". Somatic variations in the number of copies of genes (CNV) showed up in the cutaneous third fibroblast. In one single school of fibroblasts, when populated, one can create a thousand single nucleotide substitutions! Tsikavo, however, the pattern of mosaicity is fundamentally evolving from, for example, being promoted in neurons.

It is not surprising that in the cells of the shkiri, which are subdued to the level of ultraviolet viprominuvannya, mutations appear more, less in the cells of the same zones. The shkira is healthy and healthy, she's seen her function, she's been indulging in the sleepy exchanges, she's got a knotty carpet of thousands of clones. More than four of them are mutations that can help advance the development of cancer.

Yak vivchiti mosaicism

How can one continue post-zigotic changes to the genome, for example, mosaicism? For the whole of it, be sure to pick one of the main designs in the experiment:

• analysis of the development of one and the same object, for example, of the development of tissue or of the population of clitin;
• porous analysis of monozygotic (identical) twins;
• analysis of images of one and the same object, albeit ones in early hour For example, through the singing intervals for an hour, stretching out the life of one and the same people;
• a detailed analysis of the analysis of one and the same object for detecting even smaller subpopulations genetically developing a clitin.

However, there are three methods for the development of post-political mutations.

« There are two main approaches to the vivchennia of mosaicity: vivchennya of single clitins and vivchennya of groups of clitins. When analyzing single cells, a technique is required to start mutations at a high level of reliability. Tse, for example, FISH, which allows for the initiation of great changes and rearrangements in the genome, - comments Oleksiy Abizov. - At the present moment, practically all of these methods are used to generate multiple DNA from a single cell.

Multiplying DNA can be viral laboratory methods for the cloning of single clitins. The laboratory is far from ideal, and it is far from ideal to produce to the pointless pardons of DNA viroblations: for example, before the replacement of nucleotides, the establishment of chimera Cloning in the whole plan is a more thorough method, and it’s a little more stagnant only on the walls, which can be shared. Vikoristannya piece stovburovykh clitin - a way to get around the tsyu pereshkoda.

In any case, as bi DNA did not multiply, if you want to lose food: how many mutations in the multiplication of DNA can be attributed to those, as for the right to be present in the cells? One-sided thoughts in the science of sportsmanship for this nutrition are still not, but there are a lot of people in the world; short way... Vivchennya zh group kіtin allows you to know only mutations present in the whole part of it. "

Mosaicism of the season - is it for the kids about the new nobility?

Maybe you’re going to be able to get rid of the mosaicity of the genome - only the share of those in the laboratory, but not yet in the mainstream practice. It is obvious that here the ghost of a person may be looming, that people will be aware of their powerful mosaic, spiraling on the information, to improve their health (I wrote about the personalized medicine of “biomolecules”: “ From medicine for everyone - before medicine for skin!"). Ale yak to get the price of knowledge in the clinical practice of the current year, in 2018 rotsi?

As a matter of fact, even at once the glimpses are actively developing before the diagnosis of embryonic mosaicism has occurred before the implantation of genetic screening and diagnostics (PGD), detection of certain genetic anomalies in the embryo, - For rejection of the results, you can grow vicious, for example, polar tilts, a cell of the embryo at the stage of the third day of crushing, or a splinter of clit from the trophoblast of the blastocyst. As the saying goes, the mosaicism of chromosomes is present at these early stages of development, so the material can be baked.

Say for the "step-down" of the will of the European embryos, ale only such ones simply do not appear in the flow cycle. Infection to carry out robots on the basis of the results of vaginities during the transferred aneopoian and musical voices: the end of the week, the ruined development of a child or the people of a living and healthy dumbness.

The excellent result of mosaicism will become even more young, and from the children of the embryonic mosaic, the children will be absolutely healthy. Possibility to drink at the onset of the YKZ cycle may not be cheap for the patient - it is not a cheap procedure, it is physical and emotional. In such vipadkas it is possible to discuss with the doctor the transfer of the musical embryo, like є.

How can you definitely not vibrate? The most risky with the presence of musical trisomy 2, 7, 13, 14, 15, 16, 18 and 21 - a child with a high ymovіrnіstu develops a syndrome. However, the trisomes are great and with the emergence of musical monosomies and trisomy. In case of some types of mosaicism, as it is already discussed, the risik of early vaginosis should move.

At the same time, there are recommendations about those who are guilty of consulting the doctor with the patients of the mosaic of the embryo. Bringing it to life and those who do not care about the potential of the clinical corny from such an analysis, deyaki patients may not want to reject it.

Oskilki ECO, supportive analyzes and unsuccessful vaginities, and so are carried out in modern and financial terms for the patient, new data about the crucial significance of mosaicism for the people of living and healthy needs for healthy living

visnovok

If science wants to, it has already gone through a long journey in the development of mosaicism, itself fluttering a part of the check in front of it. We were spared living at the dawn of the epoch of vivchennya mosaicism, since the styles of aspects of this manifestation become unvivified. There are still not many large-scale cohort doslіdzhen, and there is still little tribute on the dynamics and frequency of mosaicism in the tissues of the body to visit the healthy people - even here we talk about the interconnection of mosaicism and the development of singers.

« We would like to go back, as soon as there will be finances, as and how mosaic it is to be established in the organs of children before the people, as you won’t be changing for life, - to pursue plans for the future of the laboratory robot Oleksiy Abizov. - Vikoristovuchi mutations like miteks, I want intelligence, how to see a special analysis of a clitin. For example, clicks and certain cells establish the internal and the external (trophoblast) mass of the clitin in the blastomere, the clicks and certain cells establish the embryonic leaves and skin organ».

It is possible, the zavdyaky in detail and development of technologies and it is possible to change individual pictures genome for cutaneous and vikoristovuvati genetic mosaicism as biomarker riziku of some ailments, ale leaves on the right mayybutny. " Є mriya to bring the experimental and analytical technology to such a level, - prodovzhu Oleksiy, - So it is possible to make a remarkably cheap picture of early development and backward parameters of mosaicity for skin people. You can, at the same time, you can more beautifully predict the health of skin people, and in this case, there will be a part of a special medical card».

Happily, there are no more serious scientific groups in vivchennya to mosaicism. Special respect to Oleksiy Abizov came to the robots of the British laboratory at the Wellcome Sanger Institute, based on the credibility of Michael Stretton, and from the scholarship to Dmitri Gordenin from the American National Institute of Health Sciences about the NIEHS

« Obviously, it’s not possible for mines to change all the processes and mutations in all cells to bring about the same people. The price is tied not to the development of technologies, but to fundamental physical and biological changes, - Oleksiy Abizov will complete the rozmovu with "biomolecules". - When lonely clientele were born, I call it “the principle of non-value” - for the analogy with the principle of non-value of Heisenberg in quantum physics. So it’s unwise to know everything about microchastinks (read - klitsі) without storing them in. With in-line development of technologies for vivchennya klin mi їkh guilty zruynuvati. Mozhlvo, in the maybutt mi, it is possible to vivchati їkh, not ruinuchi, ala, in any way, pouring into the clitina will be strong.

From the side, from the vivchenna all the clitin is mute to the senses. The head of science is aware of the natural laws and the cultivation of the middle class and the human suspension on the basis of this. Tse, I vvazhayu, we all need power. I think that a personal mosaic and connected with him speech will know his own stasis in medicine already on our occasion».

literature

1. Michael J. McConnell, John V. Moran, Alexej Abyzov, Schahram Akbarian, Taejeong Bae, et. al .. (2017). Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network. Science. 356 , Eaal1641;
2. Gilad D. Evrony, Xuyu Cai, Eunjung Lee, L. Benjamin Hills, Princess C. Elhosary, et. al .. (2012). Single-Neuron Sequencing Analysis of L1 Retrotransposition and Somatic Mutation in the Human Brain. Cell. 151 , 483-496;
3. Pray L. (2008). DNA replication and causes of mutation. Nat. Education. 1 , 214;
4. Lars A. Forsberg, David Gisselsson, Jan P. Dumanski. (2017). Mosaicism in health and disease - clones picking up speed. Nat rev genet. 18 , 128-142;
5. Kevin B Jacobs, Meredith Yeager, Weiyin Zhou, Sholom Wacholder, Zhaoming Wang, et. al .. (2012). Detectable clonal mosaicism and its relationship to aging and cancer. Nat genet. 44 , 651-658;
6. Tyl H. Taylor, Susan A. Gitlin, Jennifer L. Patrick, Jack L. Crain, J. Michael Wilson, Darren K. Griffin. (2014 rock). The origin, mechanisms, incidence and clinical consequences of chromosomal mosaicism in humans. Human Reproduction Update. 20 , 571-581;
7. T. Xu, G. M. Rubin. (2012). The effort to make mosaic analysis a household tool. Development. 139 , 4501-4503;
8. Rudolf Happle. (2017). The Molecular Revolution in Cutaneous Biology: Era of Mosaicism. Journal of Investigative Dermatology. 137 , E73-e77;
9. David Mittelman Stress-Induced Mutagenesis - Springer New York, 2013;
Rajiv C. McCoy. (2017). Mosaicism in Preimplantation Human Embryos: When Chromosomal Abnormalities Are the Norm. Trends in Genetics. 33 , 448-463;
10. Young Seok Ju, Inigo Martincorena, Moritz Gerstung, Mia Petljak, Ludmil B. Alexandrov, et. al .. (2017). Somatic mutations reveal asymmetric cellular dynamics in the early human embryo. Nature. 543 , 714-718;
11. Genera of neurons: how to carry in yourself without mutations and you are absolutely healthy;
12. Luca Comai. (2005). The advantages and disadvantages of being polyploid. Nat rev genet. 6 , 836-846;
13. Géraldine Gentric, Chantal Desdouets. (2014 rock). Polyploidization in Liver Tissue. The American Journal of Pathology. 184 , 322-331;
14. Mitchell J Machiela, Stephen J Chanock. (2017). The aging genome, clonal mosaicism and chronic disease. Current Opinion in Genetics & Development. 42 Smoking is associated with mosaic loss of chromosome Y. Science. 347 , 81-83;
15. Je H. Lee. (2018). Tracing single-cell histories. Science. 359 , 521-522;
16. Taejeong Bae, Livia Tomasini, Jessica Mariani, Bo Zhou, Tanmoy Roychowdhury, et. al .. (2018). Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis. Science. 359 , 550-555;
17. M. A. Lodato, M. B. Woodworth, S. Lee, G. D. Evrony, B. K. Mehta, et. al .. (2015). Somatic mutation in single human neurons tracks developmental and transcriptional history. Science. 350 , 94-98;
18. Alexej Abyzov, Livia Tomasini, Bo Zhou, Nikolaos Vasmatzis, Gianfilippo Coppola, et. al .. (2017). One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin. Genome Res.. 27 , 512-523;
19. Alexej Abyzov, Jessica Mariani, Dean Palejev, Ying Zhang, Michael Seamus Haney, et. al .. (2012). Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells. Nature. 492 . Fertility and Sterility. 107 , 6-11;
20. Ariel Weissman, Gon Shoham, Zeev Shoham, Simon Fishel, Milton Leong, Yuval Yaron. (2017). Chromosomal mosaicism detected during preimplantation genetic screening: results of a worldwide Web-based survey. Fertility and Sterility. 107 , 1092-1097.

mosaicism- the presence in the organism, for the fabrics take two genetically derived lines, old ones of the same zygote. If I want to vvvazati maєmo little character, when the stench is formed, you will get the same set of genes and chromosomes, without making it easier to notice. We have already introduced an understanding of mosaicism, vicious about the activation of the X chromosome, the form of two young populations of somatic cells in females, with an active father or mother's X chromosome.

most often mutations However, one can see in the United Kingdom at the intrauterine abnormal life, there can be changes in the lineage, genetically occurring from the zygote, only once all mutations have become possible on the site. Mosaicism in terms of numerical or structural chromosome anomalies is a clinically important phenomenon, and somatic mutations are the main causes of pukhlin types.

For a mutation in one gene, in somatic cells of cells, I will explain the lack of non-specific clinical conditions, for example, segmental neurofibromatosis, if shkirnі show z'yavayutsya not by all means, but dilyankas, for repeated populations in healthy fathers two or more children with incomplete osteogenesis, viscopenetrant autosomal dominant ailment.

clitin population, Nonchalant mutations in a musical patient, theoretically, they can be present in the tissues of the body, but not in the gametes (pure somatic mosaicism), there are only gametes (pure statical mosaicism), but the statuses are present, so in the somatic Moreover, if a mutation is seen in the course of the embryonic development. It includes mosaicism of only somatic tissue, only statues of cells, or even those, and іnshi, to lay down for an hour when mutations appear in embryogenesis - until after the appearance of a subset of statues and somatic cells.

Even before, then і somatic, і statevі kіtini be mosaic, and mutation can be passed on to posterity and appear somatically in mosaic form. Mutation, as it has become, appears only in statues of cells or parts of somatic tissues. In such a rank, for example, if the mutation is in the middle of the statues, the part of the gametes will carry the mutation. Prior to meiosis, cellini pass close to 30 mitotic stages in women and a few hundred in choloviks, allowing a lot of opportunities for mutations, which can be seen through mitotic stages of gamete development.

Revealing to mosaicism according to mutations only in cases of any somatic cells can be important, there are some cases of mutation in cells from readily available somatic tissues (for example, leukocytes in peripheral blood, cells in the presence of mucous membranes, children) It is even more important to characterize the breadth of somatic mosaicism, as the mutant allele in the musical embryo is developed only in extra-embryonic tissues (tobto in the placenta) and not present in the fetus itself.

somatic mosaicism

mutations It infuses morphogenesis and manifests itself in the course of membrane development, there may be segmental abnormalities, in fallowness as a stage, in which mutation has become, and the walking of somatic cells. For example, type I neurofibromatosis can manifest itself as a segmental type, injected only into one part of the body. Segmental neurofibromatosis of the I type of wickling by mosaicism by mutation, which began to be conceived. In such vipadah, the father of the patient is healthy, ale, the child is sick, the phenotype of the child is poorer, so that it is not segmental.

In such vipad mutation to be found in the gametes of the patient, mabut, has become to the subset of the state and somatic lineage of the clitin.

Mosaicism according to articles of culture

So yak a chance, scho autosomal abo X-zeplenne get sick, Viklican not a new mutation, can be seen several times in the family, even lower, some spontaneous mutations will change quickly (close to 1 in 104-106), when two genes of independent mutations are already small ). For a retreating sickness to see a small child with ailments in healthy fathers, a child with an autosomal dominant or X-hard sickness and in case of negative results of a molecular test of a disease, cause a small child to have a defect, but the result of that is an insignificant one. pivny to populacenuyu rizik.

Іsnyu, prote, good pіdtverdzhenі put on If the daddy is phenotypically healthy with negative tests for wear, there may be more than one child with viscopenetrant autosomal dominant or X-related illnesses. Such non-private ancestors can be explained by statistic mosaicism. State mosaicism is positive in 6% of lethal forms of autosomal dominant incomplete osteogenesis, if mutations in the type I collagen gene produce abnormal collagen, fragile cysts and frequent fractures.

The ancestors, who can explain their status, are also related to those with deciduous illnesses, for example, hemophilia A, hemophilia In and myazoidal dystrophy of Duchenne, which are even more common in cases of maladies Accurately change the frequency of statistic mosaicism foldably, or even approximately vazhayut, but finding the sensitivity is indicated in case of Duchenne muscular dystrophy, with up to 15% of mothers in isolated types of tissue mutilation does not appear

Now, if phenomenon state mosaicism of knowledge, genetics and genetic consultants learn about the potential for predicting a prediction, but a specific autosomal dominant or X-type phenotype, a new mutation is created, there is little risk of recurrence in the offspring. Obviously, for ailments with increased mobility of state mosaicism, phenotypically healthy little daddy's fathers, in some small ailments have a new mutation, it is necessary for some reason, but the repetition risk is not so insignificant.

Besides, daddy ditini s be-yaky autosomal dominant abo X-zennenny to get sick May the risk of repetition be 3-4%, as well as the state of mosaicism of failure, and even if it does not smell like mutation. For such couples, prenatal diagnosis is available. The exact risk of repeating the assessment is important, the fragments of it will lie in a piece of mutant gametes.