Analysis of the mutation of rhodopsin gene in an inbreeding family with autosomal recessive retinitis pigmentosa
- VernacularTitle:常染色体隐性遗传视网膜色素变性家系视紫红质基因突变的检测分析
- Author:
Jing LIU
;
Lin XIAO
;
Wei WANG
- Publication Type:Journal Article
- Keywords:
Retinitis pigmentosa;
Inbreeding;
Rhodopsin;
DNA mutational analysis
- From:
Chinese Journal of Ocular Fundus Diseases
2001;0(03):-
- CountryChina
- Language:Chinese
-
Abstract:
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.
