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人类载脂蛋白的遗传学研究:十二、巴布亚新几内亚载脂蛋白的群体遗传学

Genetic studies of human apolipoproteins: XII. Population genetics of apolipoproteins in Papua New Guinea.

作者信息

Kamboh M I, Bhatia Kuldeep K, Ferrell R E

机构信息

Human Genetics Division, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania 15261.

Human Immunogenetics Laboratory, Papua New Guinea Institute of Medical Research, Goroka, Papua New Guinea.

出版信息

Am J Hum Biol. 1990;2(1):17-23. doi: 10.1002/ajhb.1310020103.

Abstract

The gene products of the apolipoprotein A-I, A-II, A-IV, C-II, C-III, D, E and H loci have been screened by isoelectric focusing followed by immunoblotting from two Papua New Guinean populations, the Huli and the Pawaia. Only APO E and APO H revealed common polymorphisms. A putative unique A-IV variant has been identified, but due to the lack of family data it is not characterized further. Three common APO H alleles were observed in both groups with comparable frequencies. But significantly different distributions of three APO E alleles were noted in the Huli and the Pawaia. The respective frequencies of the APO E2, APO E3, and APO E4 alleles were 0.154, 0.356, and 0.490 in the Huli and 0.138, 0.603, and 0.259 in the Pawaia. A strikingly high frequency of the APO E4 allele in Papua New Guinea may provide a useful insight into the studies of genetic and environmental interactions in controlling the cholesterol levels in the general population.

摘要

通过等电聚焦,随后从两个巴布亚新几内亚人群(胡利族和帕瓦亚族)进行免疫印迹,对载脂蛋白A-I、A-II、A-IV、C-II、C-III、D、E和H基因座的基因产物进行了筛查。只有载脂蛋白E和载脂蛋白H显示出常见的多态性。已鉴定出一种假定的独特A-IV变体,但由于缺乏家系数据,未对其进行进一步表征。在两组中观察到三种常见的载脂蛋白H等位基因,频率相当。但在胡利族和帕瓦亚族中,三种载脂蛋白E等位基因的分布存在显著差异。载脂蛋白E2、载脂蛋白E3和载脂蛋白E4等位基因在胡利族中的频率分别为0.154、0.356和0.490,在帕瓦亚族中分别为0.138、0.603和0.259。巴布亚新几内亚载脂蛋白E4等位基因的显著高频率可能为研究遗传和环境相互作用对普通人群胆固醇水平的控制提供有用的见解。

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