先天性核性白内障家族的γ晶状体蛋白基因筛查  

γ -crystallin gene screen in a congenital nuclear cataract family

作　　者：曾琨[2] 黄丽娜[1] 成洪波[1] 

机构地区：[1]暨南大学附属深圳眼科医院,深圳518001 [2]暨南大学博士研究生

出　　处：《中国实用眼科杂志》2009年第6期590-594,共5页Chinese Journal of Practical Ophthalmology

摘　　要：目的在一例国人常染色体显性遗传的先天性核性白内障家族进行γ晶状体蛋白基因筛查，探讨基因与该家族发病的相关性。方法运用直接测序的方法，在一例国人常染色体显性遗传的先天性核性白内障家族进行CRYGA、CRYGB、CRYGC、CRYGD的基因筛查，确定基因变异与该家族的关系。结果在该家族中发现了9种，核苷酸序列改变，它们分别是：CRYGA的1986→A、196T→C（L48P）、CRYGB的2218→2219insC、2437C→T、5391C→A（L111I）、CRYGC的18782T→G和CRYGD的286T→C、517→570C→T，其中两种导致了氨基酸的改变。但这些基因突变并没有在该家族中和疾病共分离。结论初步排除γ晶状体蛋白基因与该先天性核性白内障家族有关。该家族白内障的发生可能由其他位置的基因突变引起。Objects To screen the γ-crystallin genes in a Chinese autosomal dominant congenital nuclear 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 （L148P） 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 identified as co-segregating with tile disease. L148P in CRYGA and L111I in CRYGB were supposed to be nucleotide polymorphisms. Conclusion Nine sequence variations have been found in the ADCC Family. But they seem not to be responsible for the disease.

关 键 词：白内障 基因筛查 γ晶状体蛋白基因 

分 类 号：R776.1[医药卫生—眼科] R725.545[医药卫生—临床医学]