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首页> 外文期刊>Russian journal of genetics >The Rate of Human Germline MutationsVariable Factor of Evolution and Diseases
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The Rate of Human Germline MutationsVariable Factor of Evolution and Diseases

机译：进化与疾病的人种系突变率变异因子

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摘要

The emergence of genetic diseases and evolutionary processes are associated with the flow of genetic information from one generation to another, in which genetic information carried by gametes can be changed by the appearance of de novo germline mutations. The rate of germline mutations determines the rate of evolution and the incidence of heritable disorders. Despite the great theoretical and practical importance, the problem of establishing mutation rates and their dependence on different factors remains scarcely studied, and the mutation rate values obtained by different methods vary considerably. The review discusses different ways of estimating the rate of these mutations and makes an attempt to explain the reasons for discrepancies in the data obtained. Three levels of the mutation formation are considered: (1) mutations that are formed during the development of a given individual during gametogenesis (basic mutations); (2) mutations transmitted to offspring and determining differences in the genomes of consecutive generations (parents and offspring), which include basic mutations and possible changes resulting from complex processes of sperm transfer to oocyte, fertilization, and subsequent events that lead to only one viable offspring of hundreds of millions spermatozoa and oocytes; (3) mutations which are formed at level 2, fixed in evolution, and determine evolutionary processes and differences between genomes, in particular, of hominoids, hominids, and hominins.
机译：遗传疾病和进化过程的出现与从一代到另一代的遗传信息流程相关，其中可以通过De Novo种系突变的出现来改变由配子携带的遗传信息。种系突变率决定了进化速度和遗传性疾病的发病率。尽管理论和实践重要性良好，但建立突变率的问题及其对不同因素的依赖仍然几乎已经研究，不同方法获得的突变率值随之而来。审查讨论了估计这些突变率的不同方式，并试图解释所获得的数据中差异的原因。考虑三种突变形成：（1）在配子发生期间在发育给定的个体期间形成的突变（基本突变）; （2）转移到后代的突变和确定连续几代（父母和后代）的基因组的差异，包括基本突变和由复杂的精子转移过程中产生的基本突变和可能的变化转移到卵母细胞，受精和随后的事件，导致一个可行的事件数百百万种子菌和卵母细胞的后代; （3）在2级，在进化中形成的突变，并确定在种族动物，特别是同源物，原始物质和母体之间的进化过程和差异。

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