人类磷酸葡萄糖异构酶（GPI）基因中的一个外显子多态性。
An exonic polymorphism in the human glucose phosphate isomerase (GPI) gene.
作者信息
Xu W, Beutler E
机构信息
The Burnham Institute, 10901 North Torrey Pines Road, La Jolla, CA 92037, USA.
出版信息
Blood Cells Mol Dis. 1997 Dec;23(3):377-9. doi: 10.1006/bcmd.1997.0154.
PMID:9398538
Abstract
A polymorphic site has been found in the human glucose phosphate isomerase (GPI) gene. This site is produced by a A-->G substitution at nt 489 of GPI cDNA, resulting in a silent mutation. To our knowledge, it is the first defined polymorphism in the gene. It is present with similar gene frequencies in Asian, American White, African American, and Jewish populations.
摘要
在人类磷酸葡萄糖异构酶（GPI）基因中发现了一个多态性位点。该位点是由GPI cDNA第489位核苷酸处的A→G替换产生的，导致了一个沉默突变。据我们所知，这是该基因中首个明确的多态性。它在亚洲、美国白人、非裔美国人和犹太人群体中以相似的基因频率存在。
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