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关于近亲婚姻与遗传负荷

On consanguineous marriages and the genetic load.

作者信息

Chakraborty R, Chakravarti A

出版信息

Hum Genet. 1977 Apr 7;36(1):47-54. doi: 10.1007/BF00390435.

DOI:10.1007/BF00390435
PMID:870410
Abstract

It has been reported that studies of the genetic consequences of inbreeding should adopt a different strategy in populations having a relatively old inbreeding history and where inbreeding levels have varied over time. This contention is tested with a series of 39,495 single-birth records from Bombay, India, collected in a World Health Organization survey on congenital malformations. Our analysis reveals that: 1. the incidence of major malformations is significantly higher among the inbred offspring (1.34%) as compared to that among non-inbred ones (0,81%)--a finding at variance with a previous study in the same area; 2. the inbreeding effect on perinatal mortality (stillbirths and mortality during the first few days of life) is also found to be significant. In view of the above findings, the genetic load as disclosed by inbreeding is computed for perinatal mortality, major malformations and pooling these together. A + B, the measure of the number of lethal equivalents per gamete, is found to be at variance with other reports. Such variability can be ascribed to non-genetic factors. Supporting evidence collected from Brazil and Malaysia in the same survey is also presented.

摘要

据报道,对于近亲繁殖遗传后果的研究,在近亲繁殖历史相对悠久且近亲繁殖水平随时间变化的人群中,应采用不同的策略。在世界卫生组织一项关于先天性畸形的调查中,收集了印度孟买的39495份单胎出生记录,以此对这一观点进行验证。我们的分析显示:1. 近亲繁殖后代中主要畸形的发生率(1.34%)显著高于非近亲繁殖后代(0.81%)——这一发现与该地区之前的一项研究结果不同;2. 近亲繁殖对围产期死亡率(死产和出生后几天内的死亡率)的影响也很显著。鉴于上述发现,我们计算了近亲繁殖所揭示的围产期死亡率、主要畸形以及将两者合并后的遗传负荷。每配子致死当量数的衡量指标A + B,与其他报告结果不同。这种变异性可归因于非遗传因素。同时还展示了在同一项调查中从巴西和马来西亚收集到的支持证据。

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