ORIGIN OF THE BETA-S-GLOBIN GENE IN BLACKS - THE CONTRIBUTION OF RECURRENT MUTATION OR GENE CONVERSION OR BOTH
ORIGIN OF THE BETA-S-GLOBIN GENE IN BLACKS - THE CONTRIBUTION OF RECURRENT MUTATION OR GENE CONVERSION OR BOTH
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DOI：
10.1073/pnas.81.3.853
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发表时间：
1984-01-01
期刊：
影响因子：
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通讯作者：
KAZAZIAN, HH
中科院分区：
文献类型：
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作者：
ANTONARAKIS, SE;BOEHM, CD;KAZAZIAN, HH
为了调查非洲血统的北美人群中导致 β-S-珠蛋白基因的突变的起源，对美国和牙买加黑人大量带有 .β.A-和 .β.S-珠蛋白基因的染色体中的 β-珠蛋白基因簇中的 DNA 多态性进行了分析。发现了与170个带有βS-珠蛋白基因的染色体相关的16个不同的单倍型的多态性位点。三种最常见的 βS 单倍型占带有 βS 珠蛋白基因的染色体的 151/170，但在这些群体中带有 βA 珠蛋白基因的染色体中很少见到 (6/47)。两项观察表明 .beta.S 突变有多个起源或等位基因间基因转换，或两者兼有；该突变存在于所有 3 个 β-珠蛋白基因框架中； .beta.S单倍型可分为4组，每一组都不能通过少于两次交叉事件衍生自任何其他组。对非洲人群中 16 种不同单倍型的 βS 突变的观察可以通过 β-珠蛋白基因 5'' 的许多简单重组事件和多达 4 个独立突变和/或等位基因间基因转换来最好地解释。
To investigate the origin(s) of the mutation(s) leading to the .beta.S-globin gene in North American populations of African ancestry, DNA polymorphisms were analyzed in the .beta.-globin gene cluster in a large number of .beta.A- and .beta.S-globin gene-bearing chromosomes in USA and Jamaican Blacks. Sixteen different haplotypes were found of polymorphic sites associated with 170 .beta.S-globin gene-bearing chromosomes. The three most common .beta.S haplotypes, which account for 151/170 of the .beta.S-globin gene-bearing chromosomes, are only rarely seen in the chromosomes bearing the .beta.A-globin gene in these populations (6/47). Two observations suggest multiple origins or interallelic gene conversion, or both, of the .beta.S mutation; the mutation is present in all 3 .beta.-globin gene frameworks; .beta.S haplotypes can be divided into 4 groups, each of which cannot be derived from any other by less two crossing-over events. Observation of the .beta.S mutation on 16 different haplotypes in African populations can be best explained by a number of simple recombination events 5'' to the .beta.-globin gene and up to 4 independent mutations and/or interallelic gene conversions.