先天性白内障家系中γ-晶体蛋白基因的多态性研究  

RESTRICTIVE FRAGMENT LENGTH POLYMORPHISM ANALYSIS OF r-CRYSTALLIN IN CONGENITAL CATARACT FAMILIES

作　　者：吕世荣[1] 于永斌[1] 艾桂芝[1] 王巍[2] 黄承斌[2] 张贵寅[2] 赵雁冰[3] 

机构地区：[1]哈尔滨医科大学第二附属医院眼 [2]哈尔滨医科大学生物学教研室 [3]哈尔滨医科大学显微眼科中心

出　　处：《眼科学报》1994年第2期98-101,共4页Eye Science

基　　金：黑龙江省自然科学基金

摘　　要：本文应用γ—晶体蛋白基因的P5G1探针在正常人与两个先天性白内障大家系中进行了限制性片段长度多态(RFLP)分析,计算了等位基因频率,并通过遗传连锁分析确定了单体型。与国外报道相同,TaqI/p5G1可检出三个多态性位点,而且各等位基因频率也接近国外报道。国外报道单体型P与Coppock白内障有连锁关系,而本文实验结果经单体型分析未发现此连锁关系的存在,提示并非所有遗传性白内障都与γ-晶体蛋白基因连锁,不能简单地以单体型P作为产前诊断的遗传标记。Using γ-crystallin gene probe P5G1, we investigated the RFLP in two large families of congenital cataracts and normal people, calculated the allelic gene frequency and defined the haplotypes by genetic linkage analysis. In accordance with- foreign reports, TaqI/p5Gl detected 3 polymorphic sites, and the allelic gene frequency was close to that in foreign reports. However, foreign reports claimed that the haplo-type P was linked to Coppock cataracts, but we did not find such linkage by haplotype analysis. The result suggests that not all the inheritent cataracts are linked to 7-crys-tallin gene, and the haplotype P should not be simply regarded as genetic marker in prenatal diagnosis.

关 键 词：先天性白内障 晶体蛋白基因 多态性 白内障 

分 类 号：R776.102[医药卫生—眼科]