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非洲人群中人类维生素D结合蛋白（GC）基因第8外显子的一种新型序列多态性。

A novel sequence polymorphism in exon 8 of the human vitamin D-binding protein (GC) gene in an African population.

作者信息

Yuasa I, Kofler A, Braun A, Bichlmaier R, Kammerer S, Cleve H

机构信息

Department of Legal Medicine, Tottori University School of Medicine, Yonago, Japan.

出版信息

Jpn J Hum Genet. 1995 Mar;40(1):149-51. doi: 10.1007/BF01874079.

DOI:10.1007/BF01874079
PMID:7780166
Abstract

A novel sequence polymorphism due to a T to C transition at the third nucleotide of the codon for Cys283 of the vitamin D-binding protein (GC) gene assigned to chromosome 4q13-4q21.1 was revealed by sequence analysis. Population studies by single strand conformation polymorphism (SSCP) analysis showed this GC-283.3 site was polymorphic in a Black African population but monomorphic in a European population.

摘要

通过序列分析发现，定位于染色体4q13 - 4q21.1的维生素D结合蛋白（GC）基因中，编码半胱氨酸283的密码子第三个核苷酸处发生了T到C的转换，产生了一种新的序列多态性。采用单链构象多态性（SSCP）分析进行的群体研究表明，该GC - 283.3位点在非洲黑人群体中具有多态性，而在欧洲人群体中为单态性。

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