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人类近亲繁殖的代价及其对DNA水平变异的影响。

The costs of human inbreeding and their implications for variations at the DNA level.

作者信息

Bittles A H, Neel J V

机构信息

Department of Human Biology, Edith Cowan University, Perth, Western Australia.

出版信息

Nat Genet. 1994 Oct;8(2):117-21. doi: 10.1038/ng1094-117.

Abstract

An analysis of the world literature on the children of first cousin marriages reveals that the depression of survival in offspring followed from birth (including late miscarriages; at about six months gestation or later) to a median age of 10 years is constant (4.4% +/- 4.6) across a wide range of values for population prereproductive mortality. There is thus no evidence for the action of conditional lethals. On the basis of these data, it is calculated that the average human is heterozygous for only 1.4 lethal equivalents capable of acting over this portion of the life cycle. The implications of these results are discussed in the context of genetic counseling, and the biomedical significance of variation in DNA.

摘要

一项对世界范围内关于表亲通婚子女的文献分析表明,在广泛的人口生殖前死亡率数值范围内,子女从出生(包括晚期流产;妊娠约六个月或更晚)到10岁中位年龄期间的生存抑制率是恒定的(4.4%±4.6%)。因此,没有证据表明存在条件致死基因的作用。根据这些数据计算得出,普通人在这一生命周期阶段仅携带1.4个致死当量的杂合基因。本文在遗传咨询以及DNA变异的生物医学意义背景下讨论了这些结果的含义。

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