X-连锁隐性视网膜色素变性的分子遗传学分析

目的探讨1个X-连锁隐性视网膜色素变性(X-linkedrecessiveretinitispigmentosa,XLRRP)家系先证者分子遗传学基础。方法应用聚合酶链反应-直接测序,检测与XLRP相关基因视网膜GTP酶调节因子(retinitispigmentosaGTPaseregulator,RPGR)基因的所有外显子和突变热区15号外显子开放阅读框(exonopenreadingframe15,ORF15)及其与内含子交界处序列。结果检测到2种新的同义突变,c.2166A>G(Glu722)和c.3396C>T(Asp1132),都位于ORF15;以及4种已知多态c.29-15G>A,c.469 63C>T,c.1227 67A>G和c.1675-101A>T。结论尚不能确定此XLRP家系的疾病相关基因。

Molecular analysis of X-linked recessive retinitis pigmentosa

Objective To make molecular genetic analysis for the proband of an X-linked recessive retinitis pigmentosa(XLRRP)family.Methods Mutation analysis was carried out by polymerase chain reaction and direct sequencing of all exons,including the mutation hot spot-exon open reading frame 15(ORF15)and exon/intron boundaries of retinitis pigmentosa GTPase regulator(RPGR)gene.Results Two novel synonmous mutations(c.2166A>G and c.3396C>T)of ORF15,and four polymorphisms(c.29-15G>A,c.469 63C>T,c.1227 67A>G and c.1675-101A>T)were detected in the proband of the family.Conclusion The genetic aetiology of this XLRP family remained unknown.