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非洲裔牙买加人、亚洲印度人和荷兰人群中红细胞谷胱甘肽过氧化物酶(GPX1)的变异。“托马斯”变体的GPX1*2等位基因是一种非洲标志物吗?

Red cell glutathione peroxidase (GPX1) variation in Afro-Jamaican, Asiatic Indian, and Dutch populations. Is the GPX1*2 allele of "Thomas" variant an African marker?

作者信息

Meera Khan P, Verma C, Wijnen L M, Jairaj S

出版信息

Hum Genet. 1984;66(4):352-5. doi: 10.1007/BF00287640.

Abstract

A Cellogel procedure for screening the electrophoretic variants of the human red cell glutathione peroxidase ( GPX1 ) was described. Three hundred and ninety eight Dutch persons living in various parts of The Netherlands, 385 individuals born in various states of India, and 72 Jamaicans of African origin living in Birmingham, UK, were screened for GPX1 variants. The Dutch were monomorphic, while one Afro-Jamaican female and two males and one female of the 116 Punjabis were found to be variants indistinguishable from each other in their pattern of electrophoresis. The clear five banded pattern of the variant indicated that the subunit structure of the human red cell glutathione peroxidase is most probably a tetramer and suggested that the variant is the expression of a heterozygote due to alleles at an autosomal locus. The corresponding phenotype was designated tentatively as GPX1 2-1 and the alleles as GPX1 *1 and GPX1 *2 respectively. The variant 2-1 was found to be identical to the "Thomas" variant described by Beutler and West (1974). Thus so far, in addition to the Afro-Americans and Ashkenazi Jews (Beutler et al. 1974), the Punjabis of the Indian subcontinent (this report) were found to exhibit the GPX1 polymorphism due to the GPX1 *2 allele. The data discussed in this paper (which included unpublished observations on several African and non-African populations) suggest that the GPX1 *2 allele is originally an African variant and hint that the present day Punjabis of Indian subcontinent, like Ashkenazi Jews, are "predominantly of Mediterranean origin with some proportion of African ancestry" ( Mourant et al. 1976).

摘要

本文描述了一种用于筛查人类红细胞谷胱甘肽过氧化物酶(GPX1)电泳变异体的Cellogel方法。对居住在荷兰各地的398名荷兰人、出生于印度不同邦的385人以及居住在英国伯明翰的72名非洲裔牙买加人进行了GPX1变异体筛查。荷兰人呈现单态性,而在116名旁遮普人中有一名非洲裔牙买加女性、两名男性和一名女性被发现是电泳模式彼此无法区分的变异体。变异体清晰的五条带模式表明,人类红细胞谷胱甘肽过氧化物酶的亚基结构很可能是四聚体,并表明该变异体是常染色体位点上等位基因杂合子的表达。相应的表型暂定为GPX1 2-1,等位基因分别为GPX1 *1和GPX1 *2。发现变异体2-1与Beutler和West(1974年)描述的“Thomas”变异体相同。因此,到目前为止,除了非裔美国人和德系犹太人(Beutler等人,1974年)之外,还发现印度次大陆的旁遮普人(本报告)由于GPX1 *2等位基因而表现出GPX1多态性。本文讨论的数据(包括对几个非洲和非非洲人群的未发表观察结果)表明,GPX1 *2等位基因最初是一种非洲变异体,并暗示如今印度次大陆的旁遮普人同德系犹太人一样,“主要起源于地中海地区,有一定比例的非洲血统”(Mourant等人,1976年)。

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