Rare variants, private polymorphisms, and locus heterozygosity in Amerindian populations.
Rare variants, private polymorphisms, and locus heterozygosity in Amerindian populations.
复制标题
美洲印第安人群体中的罕见变异、私人多态性和基因座杂合性。
DOI：
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发表时间：
1978
期刊：
影响因子：
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通讯作者：
Neel Jv
中科院分区：
文献类型：
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作者：
Neel Jv
摘要
本文报道了分布在12个美洲印第安部落成员的28种多肽中的21，103个电泳分型结果，并分析了21个美洲印第安部落对这些相同多肽的电泳研究的累积结果。到目前为止，在这些部落中已经确定了11个“私人”多态性。当部落样本被合并，在总样本中实现多态性比例的性状被排除在考虑之外时，罕见变异的平均频率为每1,000次测定中2.8次。对于在高加索人和日本人中研究的23种多肽的子集，每1,000次测定的变异频率为：印度人，2.2;高加索人（英国人），1.6;和日本人，1.5。这些多肽的平均基因座异质性（基于罕见变异加上多态性）为：印度人，0.049;高加索人，0.078;和日本人，0.077。在部落中，单态基因座的比例高于文明城市人口。有人认为，有关的力量保持种群内的遗传变异的推论，从tribespeople的样本的研究是更适当的比从文明的城市人口的样本的研究。
Abstract
The results of 21,103 electrophoretic typings distributed across 28 polypeptides in members of 12 Amerindian tribes are reported, and the accumulated results of electrophoretic studies on these same polypeptides in 21 Amerindian tribes are then analyzed. Thus far 11 'private' polymorphisms have been identified in these tribes. When the tribal samples are combined and traits achieving polymorphic proportions in the total sample excluded from consideration, the average frequency of rare variants is 2.8 per 1,000 determinations. For a subset of 23 of these polypeptides also studied in Caucasians and Japanese, variant frequencies per 1,000 determinations are: Indians, 2.2; Caucasians (British), 1.6; and Japanese, 1.5. Average locus heterogeneity for these polypeptides (based on rare variants plus polymorphisms) is: Indians, .049; Caucasians, .078; and Japanese, .077. A higher proportion of loci are monomorphic within tribes than within civilized urban populations. It is argued that for inferences concerning the forces maintaining genetic variability within populations, studies on samples from tribespeople are much more appropriate than studies on samples from civilized urban populations.