一个中国人家族性非胰岛素依赖型糖尿病的候选基因连锁分析

CANDIDATE GENE LINKAGE ANALYSIS IN A CHINESEFAMILIAL NON-INSULIN-DEPENDENT DIABETES MELLITUS PEDIGREE

应用高杂合度微卫星ＤＮＡ多态标志对一个中国人家族性非胰岛素依赖型糖尿病（ＮＩＤＤＭ）家系进行９个致病候选基因连锁分析，观察其可行性及其基因连锁情况。结果显示９个基因分析中，８个得到充分信息量，排除了与本家系ＮＩＤＤＭ的连锁关系。研究表明：（１）应用微卫星多态标志，在个别、较小的家系内可得出连锁结论；（２）本家系的ＮＩＤＤＭ与多数已报道的与ＮＩＤＤＭ有关的基因无连锁关系，表明是由其他基因参与本家系ＮＩＤＤＭ发病；（３）观察家系ＮＩＤＤＭ成员间ＤＮＡ标志的等位基因共有情况可作为家系连锁分析的预筛步骤。

Linkage analysis of 9 disease candidate genes was studied in a Chinese familial NIDDM pedigree with recently developed highheterozygosity microsatellite DNA markers in order to test its feasibility and to observe the linkage status in this family. The resultsshowed that among 9 candidate genes studied, 8 were informative,thereby excluding the linkage of these genes with NIDDM in thisfamily. This study suggests that:1) with microsatellite markers,it is possible to draw full information from a relatively small pedi-gree;2)gene(s)other than those reported to be related to NIDDM in the literature contributes to the development of NIDDM inthis family;3)the status of shared alleles of genetic markers among NIDDM members in family can be used as a preliminary screen-ing step for family linkage analysis.