Analysis of the mutations of rhodopsin gene in autosomal dominant retinitis pigmentosa family
- VernacularTitle:常染色体显性视网膜色素变性家系视紫红质基因突变的检测分析
- Author:
Xiaoye MA
;
Ruili WEI
;
Jiping CAI
- Publication Type:Journal Article
- Keywords:
Retinitis pigmentosa;
Chromosome abnormalities;
Mutations;
Polymerase chain reaction;
Rhodopsin;
DNA mutational analysis
- From:
Chinese Journal of Ocular Fundus Diseases
2000;0(04):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To detect and analyse the mutations in rhodopsin gene of members in a family affected by autosomal dominant retinitis pigmentosa (ADRP). Methods Using the polymerase chain reaction (PCR), we amplified exon 1-5 of rhodopsin gene in patients with ADRP,and analyzed it with direct sequence measuement. Results The Gly-182-Asp mutation in the rhodopsin gene was detected in most of affected members of this ADRP family, but no mutation was detected in two affected members and the control ones. Conclusion We cannot regard the Gly-182-Asp mutation in the rhodopsin gene as the pathagenic factor of the ADRP family. It is likely there is a new gene next to the rhodopsin gene.
