人类21号染色体21q22.3上COL6A2基因多态性CA重复序列的鉴定。

Identification of a polymorphic CA repeat in the COL6A2 gene on human chromosome 21q22.3.

作者信息

Comeglio P, Saitta B, Pepe G, Chu M L

机构信息

Department of Biochemistry, Jefferson Institute of Molecular Medicine, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA.

出版信息

Hum Hered. 1996 Jul-Aug;46(4):239-40. doi: 10.1159/000154360.

DOI:10.1159/000154360

PMID:8807328

Abstract

We have identified a CA repeat in intron 10 of the human alpha 2(VI) collagen gene (COL6A2), located on chromosome 21q22.3. At least seven alleles ranging from 14 to 20 repeats have been demonstrated by the polymerase chain reaction from genomic DNA of 71 random unrelated healthy persons.

摘要

我们在位于21号染色体21q22.3上的人类α2(VI)胶原基因（COL6A2）的第10内含子中鉴定出一个CA重复序列。通过聚合酶链反应对71名随机选取的无亲缘关系健康个体的基因组DNA进行检测，已证实至少存在7个等位基因，其重复次数在14至20次之间。