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葡萄糖-6-磷酸脱氢酶变体A(+)和A(-)中存在相同的额外FokI切割位点。

The same extra FokI cleavage site exists in glucose-6-phosphate dehydrogenase variants A(+) and A(-).

作者信息

Yoshida A, Takizawa T

机构信息

Department of Biochemical Genetics, Beckman Research Institute of the City of Hope, Duarte, CA 91010.

出版信息

Am J Hum Genet. 1988 Aug;43(2):131-3.

Abstract

Two common variants of glucose-6-phosphate dehydrogenase (G6PD), i.e., A(+) and A(-), exist in blacks in high frequencies. The mutation of the A(+) gene is a single nucleotide transition, A/G in equilibrium Asp) in the G6PD protein and produces an additional FokI cleavage site of the mutation site. Thus, the FokI fragment types detected by the genomic clone that contain the mutation site differ in the normal B(+) DNA and the variant A(+) DNA. The FokI fragment type of the variant A(-) is the same as that of the A(+). Since A(+) and A(-) enzymes differ at the protein level, the A(-) gene was presumably evolved by stepwise mutations through the A(+) gene.

摘要

葡萄糖-6-磷酸脱氢酶(G6PD)的两种常见变体,即A(+)和A(-),在黑人中以高频率存在。A(+)基因的突变是单个核苷酸转换,即G6PD蛋白中第680位密码子由天冬氨酸密码子(GAT)突变为甘氨酸密码子(GGT),并在突变位点产生一个额外的FokI切割位点。因此,包含突变位点的基因组克隆检测到的FokI片段类型在正常的B(+) DNA和变体A(+) DNA中有所不同。变体A(-)的FokI片段类型与A(+)相同。由于A(+)和A(-)酶在蛋白质水平上存在差异,推测A(-)基因是通过A(+)基因逐步突变进化而来的。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b520/1715343/fdfbe8c2edeb/ajhg00118-0022-a.jpg

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