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无手足畸形(巴西的无手无足家族)的遗传学。VII. 群体动态

Genetics of acheiropodia (the handless and footless families of Brazil). VII. Population dynamics.

作者信息

Freire-Maia A, Li W H, Maruyama T

出版信息

Am J Hum Genet. 1975 Sep;27(5):665-75.

Abstract

Since carriers of the acheiropodia gene cannot be distinguished from noncarriers, parents and normal sibs of affected individuals have been used to estimate the fitness of heterozygotes. No significant difference in biologic fitness (viability and fertility) between normal sibs and the general population could be detected. A comparison between acheiropods and their normal sibs showed the following: (1) a nonsignificant difference in stillbirth rate; (2) a higher mortality rate of acheiropods in the first 5 years of life; (3) a relative viability not larger than .7; (4) a relative fertility no greater than .14, due to "cosmetic effects"; and (5) a fitness of .10 or lower. The total number of acheiropodia genes in Brazil has been calculated as 25,000 in the 1970s. The data are compatible with an extremely low mutation rate and a very stable locus. It is suggested that all Brazilian acheiropods can be traced to a single mutation. A conservative estimate of the number of acheiropods to appear in the future in Brazil is 14,000 with an extinction time of no less than 2,300 generations or almost 70,000 years. A variety of other parameters have been calculated.

摘要

由于无法区分无手足畸形基因的携带者和非携带者,因此利用患者的父母和正常同胞来估计杂合子的适合度。未检测到正常同胞与普通人群在生物学适合度(生存能力和生育能力)上存在显著差异。对无手足畸形者与其正常同胞的比较显示如下情况:(1)死产率无显著差异;(2)无手足畸形者在生命的前5年死亡率较高;(3)相对生存能力不大于0.7;(4)由于“外观影响”,相对生育能力不大于0.14;(5)适合度为0.10或更低。据计算,20世纪70年代巴西无手足畸形基因的总数为25000个。这些数据与极低的突变率和非常稳定的基因座相符。有人认为,巴西所有的无手足畸形者都可追溯到一次单一的突变。据保守估计,巴西未来出现的无手足畸形者数量为14000个,灭绝时间不少于2300代或近70000年。还计算了各种其他参数。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7eaa/1762833/dd22b57f87e3/ajhg00438-0096-a.jpg

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