广西医科大学学报2017，Vol.34Issue(6)：873-875,3.DOI:10.16190/j.cnki.45-1211/r.2017.06.021
一个常染色体显性视网膜色素变性壮族家系RHO基因的突变检测
RHO gene mutation detection in a Zhuang family with autosomal dominant retinitis pigmentosa family
摘要
Abstract
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.关键词
视网膜色素变性/RHO基因/突变分析Key words
retinitis pigmentosa/RHO gene/mutation analysis分类
医药卫生引用本文复制引用
覃莉,潘尚领,李萌,吴华裕,赵宇,张锋雷..一个常染色体显性视网膜色素变性壮族家系RHO基因的突变检测[J].广西医科大学学报,2017,34(6):873-875,3.基金项目
国家自然科学基金资助项目(No.81360066) （No.81360066）
广西壮族自治区教育厅课题资助项目(No.2013YB290) （No.2013YB290）
