视网膜色素变性显性遗传家系3号染色体连锁分析

Linkage analysis of chromosome 3 in three Chinese families with autosomal dominant retinitis pigmentosa

目的 :用连锁分析法对三个显性视网膜色素变性家系 (CY、WN、ZH) 3号染色体进行分析 ,确定致病基因。方法 :随机选取 3号染色体视紫红质 (rhodopsin ,RHO)基因上下约 5厘摩 (centimorgancM )范围内的 6对微卫星标记 (marker) ,确立单倍体型 ,用两点法计算最大优势对数 (LODSCORE)值。结果 :所选微卫星标记与CY、WN家系表型间LOD值呈负相关关系 ,而ZH家系与位点D3S36 0 6间LOD值为 2 5 2。结论 :RHO基因为CY、WN家系的非候选基因 ,RHO基因可能是家系ZH致病基因。

Objective:Genetic mapping of RHO gene on chromosome 3q in three Chinese families with autosomal dominant retinitis pigmentosa.Method:Six microsatellite markers were selected from the region of approximately 5 centimorgans(cM) harboring RHO.Haplotype was determined with 6% acrylamide denaturing gels electrophoresis.Two-point linkage analysis was performed using MLINK.Results:The maximum of LOD Score was 2.52(D3S3606 vs adRP) in one of three families,and the LOD Score of each marker vs adRP in the other two pedigrees are negtive.Conclusion:RHO gene may be the candidate gene in the family linked to the locus of chromosome 3q.