F Zhang1, Q Zhang, H Shen, S Li, X Xiao. 1. Zhongshan Ophthalmic Center, Sun Yat-sen University of Medical Sciences, National Ophthalmological Laboratory, Ministry of Public Health, Guangzhou 510060, China.
Abstract
PURPOSE: To disclose the mutation of rhodopsin and peripherin/RDS genes among Chinese patients with retinitis pigmentosa as there was no identified mutation through sequencing reported in Chinese. METHODS: Genomic DNA was prepared from the peripheral lymphocytes. Gene fragments of the rhodopsin and peripherin/RDS genes were amplified by the polymerase chain reaction. The PCR products were analyzed by Heteroduplex-SSCP technique. PCR samples with aberrant migrational bands were identified through direct sequencing or cloning sequencing. RESULTS: Three different mutations in the rhodopsin gene were found in 3 of the 83 patients with retinitis pigmentosa(Va1104Phe, Lys311Glu, Pro347Leu). Two of the three mutations have not been reported before. One of the two (heterozygous, Va1104Phe) was found in an isolated patient and the other (homozygous, Lys311Glu) in a family with autosomal recessive retinitis pigmentosa. Mutation of peripherin/RDS gene was not found in the 83 patients. CONCLUSION: Mutation in the rhodopsin gene is the common cause in Chinese patients with retinitis pigmentosa, either autosomal dominant, recessive or sporadic.
PURPOSE: To disclose the mutation of rhodopsin and peripherin/RDS genes among Chinese patients with retinitis pigmentosa as there was no identified mutation through sequencing reported in Chinese. METHODS: Genomic DNA was prepared from the peripheral lymphocytes. Gene fragments of the rhodopsin and peripherin/RDS genes were amplified by the polymerase chain reaction. The PCR products were analyzed by Heteroduplex-SSCP technique. PCR samples with aberrant migrational bands were identified through direct sequencing or cloning sequencing. RESULTS: Three different mutations in the rhodopsin gene were found in 3 of the 83 patients with retinitis pigmentosa(Va1104Phe, Lys311Glu, Pro347Leu). Two of the three mutations have not been reported before. One of the two (heterozygous, Va1104Phe) was found in an isolated patient and the other (homozygous, Lys311Glu) in a family with autosomal recessive retinitis pigmentosa. Mutation of peripherin/RDS gene was not found in the 83 patients. CONCLUSION: Mutation in the rhodopsin gene is the common cause in Chinese patients with retinitis pigmentosa, either autosomal dominant, recessive or sporadic.
Authors: Joseph Carroll; Rigmor C Baraas; Melissa Wagner-Schuman; Jungtae Rha; Cory A Siebe; Christina Sloan; Diane M Tait; Summer Thompson; Jessica I W Morgan; Jay Neitz; David R Williams; David H Foster; Maureen Neitz Journal: Proc Natl Acad Sci U S A Date: 2009-11-23 Impact factor: 11.205