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新加坡不同种族群体中的γ-氨基丁酸转氨酶(GABAT)多态性——兼报道一个新等位基因

gamma-Aminobutyric acid transaminase (GABAT) polymorphism among ethnic groups in Singapore--with report of a new allele.

作者信息

Bhattacharyya S P, Saha N, Wee K P

出版信息

Am J Hum Genet. 1985 Mar;37(2):358-61.

PMID:3985010
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1684561/
Abstract

gamma-Aminobutyric acid transaminase (GABAT, E.C.2.6.I.19) was phenotyped by starch-gel electrophoresis in post-mortem liver samples from 650 unrelated subjects of either sex, comprising 289 Chinese, 177 Indians, 140 Malays, and 44 from other racial groups from Southeast Asia. The estimated gene frequencies of GABAT1 and GABAT2 were found to be .5779 and .3806 in Chinese, .5678 and .3955 in Indians, and .6214 and .3250 in Malays. The frequency of GABAT1 was .5909 in the mixed group of other races. There was no significant difference in the phenotypic distribution between sexes. A new slow (less anodal) variant (GABAT3) has been observed in low frequency in all the groups (.0415, .0367, 0536, and 0536, and .0568 in Chinese, Indians, Malays, and the mixed-group, respectively). The distribution of GABAT phenotypes was at Hardy-Weinberg equilibrium in all the ethnic groups studied.

摘要

采用淀粉凝胶电泳法对650名来自不同种族的男女尸检肝脏样本中的γ-氨基丁酸转氨酶(GABAT,E.C.2.6.I.19)进行表型分析,这些样本包括289名中国人、177名印度人、140名马来人以及44名来自东南亚其他种族群体的人。在中国人群体中,GABAT1和GABAT2的估计基因频率分别为0.5779和0.3806;在印度人群体中,分别为0.5678和0.3955;在马来人群体中,分别为0.6214和0.3250。在其他种族的混合群体中,GABAT1的频率为0.5909。男女之间的表型分布没有显著差异。在所有群体中均观察到一种新的慢(向阳极迁移较少)变体(GABAT3),其频率较低(在中国人群体、印度人群体、马来人群体和混合群体中分别为0.0415、0.0367、0.0536、0.0536和0.0568)。在所研究的所有种族群体中,GABAT表型分布均处于哈迪-温伯格平衡状态。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a45c/1684561/539e5769f3e6/ajhg00157-0129-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a45c/1684561/539e5769f3e6/ajhg00157-0129-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a45c/1684561/539e5769f3e6/ajhg00157-0129-a.jpg

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本文引用的文献

1
The biochemical genetics of human gamma-aminobutyric acid transaminase.人类γ-氨基丁酸转氨酶的生化遗传学
Ann Hum Genet. 1981 Jul;45(3):231-6. doi: 10.1111/j.1469-1809.1981.tb00334.x.
2
Biochemical-physiological correlations in studies of the gamma-aminobutyric acid system.γ-氨基丁酸系统研究中的生化-生理相关性
Brain Res. 1968 Apr;8(1):1-35. doi: 10.1016/0006-8993(68)90170-4.