MA Xiaoye , WEI Ruili , CAI Jiping , et al
  • Department of Ophthalmology, Changzheng Hospital, Second Military Medical University, Shanghai 200003，China;
Retinitis pigmentosa; Chromosome abnormalities; Mutations; Polymerase chain reaction; Rhodopsin; DNA mutational analysis
Export PDF Favorites Scan Get Citation

Abstract Full text Figures/Tables References Cited by

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. (Chin J Ocul Fundus Dis, 2002, 18: 256-258)

Citation： MA Xiaoye,WEI Ruili,CAI Jiping,et al. Analysis of the mutations of rhodopsin gene in autosomal dominant retinitis pigmentosa family. Chinese Journal of Ocular Fundus Diseases, 2002, 18(4): 256-258. doi: Copy