全基因组扫描定位一个先天性全白内障家系的致病基因

Gene mapping of a pedigree with congenital total cataract with the genome scan linkage analysis

目的定位一个先天性全白内障家系的致病基因。方法收集一个先天性全白内障家系中10个成员的外周血样本,提取基因组DNA。应用ABI-MD10试剂盒中的常染色体382个微卫星位点,对此家系进行全基因组扫描。MLINK软件进行两点连锁分析。结果发现在D13S263位点处提示存在连锁(最大LOD=1.20,重组率θ=0),进一步检测该位点附近若干其它的微卫星标记,经连锁分析其致病基因被定位到D13S175和D13S156之间的大约53.9厘摩(cM)区域上。结论该家系致病基因位点被定位到13号染色体的13q12.11-q22.1之间的大约53.9cM区域上。此研究为探讨遗传性全白内障的发病机制提供了有价值的信息,并为该家系今后开展产前诊断奠定了基础。

Objective:To map the disease-causing gene of a congenital total cataract pedigree.Methods:Genomic DNA was extracted from peripheral blood samples of 10 members of a congenital total cataract family.This family was genotyped by genome scan using 382 autosomal microsatellite markers from ABI-MD10.Two-point linkage analysis was carried out by the MLINK program.Results:The maximum two-point LOD score,1.20 at θ=0 was obtained for the maker D13S263.By further testing several other microsatellite markers near this site,the region of the disease-causing gene in this family was located in the 53.9 cM between D13S175 and D13S156 by linkage analysis.Conclusion:The disease-causing gene of the family was located in the 53.9 cM region of chromosome 13 between 13q12.11 and q22.1.This study provides valuable information for exploring the pathogenesis of hereditary cataract and lays a foundation for the future prenatal diagnosis of the family.