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用放射性配体检测基因变异。IV. 甲状腺素结合球蛋白(TBG)的X连锁多态性基因变异。

Detection of genetic variation with radioactive ligands. IV. X-linked, polymorphic genetic variation of thyroxin-binding globulin (TBG).

作者信息

Daiger S P, Rummel D P, Wang L, Cavalli-Sforza L L

出版信息

Am J Hum Genet. 1981 Jul;33(4):640-8.

Abstract

A genetically determined, polymorphic electrophoretic variant of thyroxin-binding alpha-globulin (TBG) is found in sera from populations of African and Oceania origin, although not in Caucasians nor Orientals. The TBG polymorphism is inherited in X-linked fashion, based on data from American blacks, and thus provides an X-chromosome marker with a relatively high gene frequency in this ethnic group (frequency of the slow allele, TBGs, is 11%). This slow variant should prove valuable in expanding the map of the X chromosome and in linkage studies. An additional family exhibiting X-linked TBG deficiency is also described.

摘要

在非洲和大洋洲裔人群的血清中发现了一种由基因决定的甲状腺素结合α球蛋白(TBG)多态性电泳变体,而在白种人和东方人中未发现。根据美国黑人的数据,TBG多态性以X连锁方式遗传,因此在该种族群体中提供了一个基因频率相对较高的X染色体标记(慢等位基因TBGs的频率为11%)。这种慢变体在扩展X染色体图谱和连锁研究中应具有重要价值。还描述了另一个表现为X连锁TBG缺乏的家系。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3630/1685094/6f468055d636/ajhg00364-0150-a.jpg

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