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Abstract #6594 Published in IGR 4-1
Differential occurrence of mutations causative of eye diseases in the Chinese population
Chi PP; Lam DSCHuman Mutation 2002; 19: 189-208
Ethnic differences and geographic variations affect the frequencies and nature of human mutations. There are few descriptions of causative mutations of eye diseases in the Chinese population in the literature. In this paper, the authors attempt to reveal molecular information on genetic eye diseases involving Chinese patients from published and unpublished works by themselves and other groups. Their studies on candidate genes from eye diseases in the Chinese population in Hong Kong include MYOC and TISR for primary open-angle glaucoma, RHO and RP1 for retinitis pigmentosa, ABCA4 and APOE for age-related macular degeneration, RB1 for retinoblastoma, APC for familial adenomatous polyposis with congenital hypertrophy of retinal pigment epithelium, BIGH3/TGFBI for corneal dystrophies, PAX6 for aniridia and Reiger syndrome, CRYAA and CRYBB2 for cataracts, and mtDNA for Leber hereditary optic neuropathy. The authors have shown novel mutations in most of these genes, and in RHO, RP1, RB1, BIGH3, and PAX6, they have reported mutations that contribute to better understanding of the functions and properties of the respective gene products. They showed that the absence of MYOC does not necessarily cause glaucoma. No disease causative mutations have been identified in MYOC or ABCA4. There are similarities in the patterns of sequence alterations and phenotype-genotype associations in comparison with other ethnic groups, while the MYOC, RB1, APC, and PAX6 genes have more Chinese-specific sequence alterations. Establishment of a mutation database specific for the Chinese is essential for the identification of genetic markers with diagnostic, prognostic, or pharmacological values.
Prof. P.P. Chi, Chinese University of Hong Kong, Hong Kong Eye Hospital, 147K Argyle Street, Kowloon, Hong Kong. cppang@cuhk.edu.hk
Classification:
1.2 Population genetics (Part of: 1 General aspects)