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西非冈比亚一个乡村人群中的α1-抗胰蛋白酶(pi)表型。一个以多态频率出现的新变异体的证据。

Alpha 1-antitrypsin (pi) phenotypes in a village population from The Gambia, West Africa. Evidence of a new variant occurring at a polymorphic frequency.

作者信息

Welch S G, McGregor I A, Williams K

出版信息

Hum Genet. 1980 Feb;53(2):233-5. doi: 10.1007/BF00273503.

Abstract

A total of 701 individuals from a village in The Gambia, West Africa were tested for serum alpha 1-antitrypsin phenotypes by isoelectric focusing in thinlayer polyacrylamide gels (pH 4--5). A new variant allele, PiGAM, was discovered at a polymorphic frequency (0.0642), and the inheritance of the variant phenotype was confirmed by family studies. The variant was not found to be associated with any decrease in serum alpha 1-antitrypsin concentration. The only other allele found within this population was the common allele PiM (0.9358).

摘要

在西非冈比亚的一个村庄,共701人接受了检测,通过在薄层层析聚丙烯酰胺凝胶(pH 4-5)中进行等电聚焦来检测血清α1-抗胰蛋白酶表型。发现了一个新的变异等位基因PiGAM,其多态频率为0.0642,通过家系研究证实了该变异表型的遗传情况。未发现该变异与血清α1-抗胰蛋白酶浓度降低有关。在该人群中发现的唯一其他等位基因是常见的等位基因PiM(0.9358)。

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