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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: To analyze the three chromosomes (CY, WN, ZH) of the three dominant retinitis pigmentosa families by linkage analysis and identify the causative genes. Methods: Six pairs of microsatellite markers were randomly selected from rhodopsin (RHO) gene in the range of about 5 centimorgancM to establish the haplotype. The maximum dominant logarithm was calculated by the two-point method (LODSCORE) value. Results: The microsatellite markers were negatively correlated with the LOD values of phenotypes of CY and WN pedigrees, while the LOD value of D3S36 0 between ZH pedigrees and loci was 252. Conclusion: The RHO gene is a non-candidate gene of CY and WN pedigrees, and the RHO gene may be a susceptible gene of ZH.