家族性常染色体遗传性白内障家系的连锁分析

Linkage analysis of an autosomal dominant congenital cataract family

目的:针对缝隙连接蛋白50基因的突变筛查结果验证该基因是否为这一家族性常染色体遗传性白内障家系遗传性白内障的致病基因。方法:选取缝隙连接蛋白50基因所在1号染色体附近的微卫星位点和缝隙连接蛋白50基因序列上的单核苷酸多态性位点进行连锁分析。结果:该家系遗传性白内障疾病候选基因与微卫星位点D1S498和缝隙连接蛋白50基因单核苷酸多态性位点Rs1495960和Rs9437983有连锁趋势。当θ=0时,在缝隙连接蛋白50基因的单核苷酸位点上,LOD值最大,为0.3。结论:验证了该家系遗传性白内障的致病基因为突变的缝隙连接蛋白50基因。

Objective：To verify whether connexin50 is the pathogenic gene in the autosomal dominant congenital cataract family based on the identified mutation in connexin50 gene.Method：Linkage analysis was performed respectively on the Short Tandem Repeats loci near chromosome 1in which connexin50 gene locates and single nucleotide polymorphism sites on the sequence of connexin50 gene.Result：The linkage tendency was when the value ofθis 0,the maximum value of LOD was 0.3at D1S498 and Rs1495960and Rs9437983.Conclusion：The role as apathogenic gene of connexin50 causing congenital cataract in the family was reconfirmed by the linkage analysis.