一视网膜色素变性家系的基因检测分析

Analysis of the Gene Sequencing in Patients with One Family Retinitis Pigmentosa

目的通过对一个三代视网膜色素变性(RP)家系进行基因检测分析,找到其致病基因。方法采用外显子捕获直接测序,检测家系成员40个RP相关基因,经与美国国立生物技术信息中心(NCBI)的SNP数据库(dbSNP)和国际人类基因组单体型图(Haplotype Map,简称HapMap)数据库进行比较,查找致病基因。结果该家系的致病基因位于USH2A基因。该基因编码区存在2个错义突变(p.Tyr1279Asn、p.Cys934Trp)。结论本研究在一个三代RP家系中发现了USH2A基因p.Tyr1279Asn、p.Cys934Trp两个新突变位点。

Objective To explore the disease-causing genes through Molecular genetics research for three generations patients with retinitis pigmentosa.Methods 40 RP related genes were detected with DNA exon trapping sequencing direct sequencing analysis.The gene information was compared with dbSNP of NCBI and datebase of HapMap to find out the causative genes.Results The disease-causing mutation gene located in USH2A gene,There were 2 missense mutation in the coding region of the USH2A gene （p.Tyr1279Asn,p.Cys934Trp）.Conclusion In this study,two new mutation sites of USH2A gene：p.Tyr1279Asn,p.Cys934Trp were found in a three generations of retinitis pigmentosa.