摘要
目的 观察一个近亲婚配常染色体隐性遗传视网膜色素变性 (ARRP)家系中视紫红质基因(RHO)的突变特征 ,并探讨其视网膜色素变性 (RP)发病机制。 方法 抽取 8例该 ARRP家系成员及 10例正常对照者的外周静脉血 5~ 8ml;提取基因组 DNA;采用聚合酶链反应 (PCR)方法扩增 RHO基因第1~ 5外显子和第 1内含子基因片段 ,用直接 DNA测序法筛查 RHO基因突变。 结果 来自同一家系 3例患者 RHO基因的第 5外显子第 344密码子发生了 A→ G碱基的错义突变 ,导致了谷氨酰胺变成了精氨酸(Gln344 Arg) ,3例患者为该突变的纯合子。患者近亲婚配父母及 1例未患病家庭成员为该突变的杂合子。2例未患病家庭成员及 10例正常对照者均未发现 RHO基因突变。 结论 Gln344 Arg突变可能是该ARRP家系的致病原因 ;在近亲婚配 ARRP家系中 RHO基因突变频率可能增加。
Objective To detect characteristics and the pathogenesis of rhodopsin (RHO) gene mutation in an inbreeding family with autosomal recessive retinitis pigmentosa (ARRP). Methods Peripheral venous blood 5-8 ml was abstracted from 8 members in the inbreeding ARRP family and 10 control individuals. DNA gene group was picked. Extron 1-5 of RHO gene was amplified by polymerase chain reaction (PCR),and the mutation of RHO gene was screened by direct DNA sequence measurement. Results The Gln-344-Arg mutation in the RHO gene was detected in 3 patients with ARRP and homozygotes of the mutation in 3 patients were found. Heterozygous of the mutation was detected in the parent of patients and 1 healthy family member. No mutation of RHO gene was found in 2 healthy family members and 10 control individuals. Conclusions The Gln-344-Arg mutation in the RHO gene may be the pathogenic factor of the ARRP family; the frequency of the mutation of RHO gene may increase in the inbreeding ARRP family.
出处
《中华眼底病杂志》
CAS
CSCD
2004年第3期145-148,共4页
Chinese Journal of Ocular Fundus Diseases