Digenic association of RHO and RP1 genes with retinitis pigmentosa among Chinese population in Hong Kong

• Published in: Zhong hua yi xue za zhi Vol. 85; no. 23; p. 1613
• Main Authors: Wang, Dan-yi, Fan, Bao-jian, Chan, Wai-man, Tam, Oi-sin, Chiang, Wai-yee, Lam, Shun-chiu, Pang, Chi-pui
• Format: Journal Article
• Language: Chinese
• Published: China 22-06-2005
• Subjects: Adolescent; Adult; Aged; Aged, 80 and over; Asian Continental Ancestry Group - genetics; Child; Eye Proteins - biosynthesis; Eye Proteins - genetics; Female; Hong Kong; Humans; Male; Middle Aged; Mutation; Pedigree; Retinitis Pigmentosa - genetics; Rhodopsin - genetics; Hong Kong
• ISSN: 0376-2491

To identify the mutation patterns of RHO and RP1 genes in the Chinese patients with retinitis pigmentosa (RP) and to explore their potential interactions in the pathogenesis of RP.
Sequence alterations in the entire coding region and splice sites of RHO and RP1 gene were screened in 151 RP affected probands and 150 unrelated controls who were all Hong Kong Chinese. Additional 46 relatives of 12 RP probands carrying possible mutations in RHO or RP1 were recruited for segregation analysis. Univariate analysis, multivariate analysis and genotype-pedigree disequilibrium test were used to examine the associations of polymorphisms in these two genes with RP.
Two mutations in the RHO gene, 5211delC and P347L, were identified each in one proband from the 151 probands, accounting for 1.3% of the RP patients. Two mutations in the RP1 gene, R677X and D984G, were identified each in one proband from the 151 probands, also accounting for 1.3% of the RP patients. In univariate analysis, non-coding sequence variants in the R