人类糖原合酶基因中一个简单串联重复DNA多态性的鉴定及其与19号染色体q臂上五个标记的连锁关系。

Identification of a simple tandem repeat DNA polymorphism in the human glycogen synthase gene and linkage to five markers on chromosome 19q.

作者信息

Vionnet N, Bell G I

机构信息

Howard Hughes Medical Institute, University of Chicago, IL 60637.

出版信息

Diabetes. 1993 Jun;42(6):930-2. doi: 10.2337/diab.42.6.930.

DOI:10.2337/diab.42.6.930

PMID:8495815

Abstract

We have identified a simple tandem repeat DNA polymorphism in the human glycogen synthase gene of the form (TG)n. This DNA polymorphism has 10 alleles and a heterozygosity of 0.82 and can be easily typed using the polymerase chain reaction. It has been localized within the framework genetic map of chromosome 19 and is located in the region of the apolipoprotein C-II and histidine-rich calcium-binding protein genes. This DNA polymorphism will facilitate genetic studies of the role of the glycogen synthase gene in the development of insulin resistance and NIDDM.

摘要

我们在人类糖原合酶基因中鉴定出一种形式为（TG）n的简单串联重复DNA多态性。这种DNA多态性有10个等位基因，杂合度为0.82，并且可以使用聚合酶链反应轻松分型。它已定位在19号染色体的框架遗传图谱内，位于载脂蛋白C-II和富含组氨酸的钙结合蛋白基因区域。这种DNA多态性将有助于对糖原合酶基因在胰岛素抵抗和非胰岛素依赖型糖尿病（NIDDM）发生中作用的遗传学研究。