Objective:To study the gene mutation characteristics in a Zhuang family with autosomal dominant retinitis pigmentosa (ADRP).Methods:Venous bloods were drown and DNA samples were extracted from members of a Zhuang family with ADRP.PCR amplification and DNA sequencing were employed to detect potential mutations in five exons and related exon intron junction regions of the RHO gene.Results:A heterogenous genotype (ACC/ACT) was detected at the codon 62 of RHO gene in one member of the ADRP family,while a IVS3 +4 C＞T mutation was found on RHO gene in 2 members of the control group.Conclusion:Mutations of Thr62Thr and IVS3+4 C＞T in RHO gene were only polymorphisms of RHO gene rather than pathological causal variants for ADRP in the Zhuang family.The causal gene of this family needs further investigation.%目的:研究常染色体显性遗传视网膜色素变性(ADRP)壮族家系的视紫红质(RHO)基因突变特征.方法:抽取ADRP壮族家系患者、家庭成员及正常对照者外周静脉血,提取DNA,聚合酶链反应(PCR)扩增和直接测序检测RHO基因5个外显子及其与内含子交界区域序列.结果:检测到该家系中1例患者的RHO基因第62位密码子存在ACC和ACT两种杂合类型;正常对照组发现2例成员的RHO基因IVS3+4 C＞T突变.结论:RHO基因Thr 62 Thr与IVS3+4C＞T两种沉默型突变不是ADRP壮族家系的致病原因,系RHO基因的多态现象,其致病基因有待进一步筛查.
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