Abstract
Objects To screen the γ-crystallin genes in a Chinese autosomal dominant congenital nu-clear cataract (ADCC) family. Methods Tile genes CRYGA,CRYGB,CRYGC,CRYGD were screened by direct sequencing in the ADCC family. Family analysis was used to analyze the correlation of the mutations and tile disease. Results Nine sequence variants were found: 198G→A and 196T→C (LI48P) in CRYGA,2218-2219 in C,2437C→T and 5391C→A (L111I) in CRYGB, 18782T→G in CRYGC,2861T→C, 517T→C and 570C→T in CRYGD. Two mutations lead to amino acid changes. However,no mutation could be identi-fled as co-segregating with tile disease. L148P in CRYGA and L111I in CRYGB were supposed to be nu-cleotide polymorphisms. Conclusion Nine sequence variations have been found in the ADCC Family. But they seem not to be responsible for the disease. Key words: Cataract; Gene screen; γ-crystallin gene
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