中国人非胰岛素依赖型糖尿病侯选基因的连锁分析

Linkage Analysis of the Candidate Genes of Non insulin Dependent Diabetes Mellitus in Chinese Families

在１２个中国人非胰岛素依赖型糖尿病（ＮＩＤＤＭ）家系中对胰岛素受体、葡萄糖转运蛋白２、葡萄糖激酶３个基因的遗传标志进行连锁分析。结果表明：胰岛素受体基因的变异在所涉及的家系中不是中国人常见型ＮＩＤＤＭ的主要原因。葡萄糖转运蛋白２基因或其附近的变异在部分中国人ＮＩＤＤＭ家系中有一定致病倾向，而葡萄糖激酶遗传标志与ＮＩＤＤＭ的连锁分析在６个家系中总ＬＯＤ（ｌｏｇａｒｉｔｈｍｏｆｏｄｄｓ）值达３．１５，说明葡萄糖激酶基因位点或其附近的变异在某些中国人ＮＩＤＤＭ家系中具重要意义，可能代表着中国人常见型ＮＩＤＤＭ的１个亚群。

Linkage analysis was performed to detect the relationship between non insulin dependent diabetes mellitus (NIDDM) and the genetic markers of insulin receptor(INSR), glucose transporter 2(GLUT2) and glucokinase (GCK) in 12 Chinese families. The linkage program was used under the model of autosomal dominant and recessive. The results indicate that the mutations of INSR gene are unlikely to be the major cause of inherited predisposition to common NIDDM in the Chinese in this study. The mutations in or near the GLUT2 gene tend to be related to NIDDM, but should be ascertained with more significant data. While the variations near the GCK locus play an important role in some Chinese pedigrees with the evidence of total LOD score reaching 3.15 in 6 families, and it might represent a subgroup of commom NIDDM in Chinese.