三峡库区两个遗传性白内障家系的发现与遗传学研究  

Finding and Study of Two Genetic Cataract Families in Three Gorges Reservoir Area

作　　者：李练兵 崔蓉 王典[2] 吕静 张丹妍[3] 丁裕斌[4] 李新生 杨皓 赵乐天 王应雄[4] 马明福 

机构地区：[1]重庆市人口和计划生育科学技术研究院出生缺陷/生殖健康市重点实验室,重庆400020 [2]汕头大学医学院 [3]四川大学华西基础医学院 [4]重庆医科大学公共卫生学院

出　　处：《预防医学情报杂志》2009年第10期797-799,共3页Journal of Preventive Medicine Information

基　　金：重庆市科学技术委员会(CSTC;2007BB0249;CSTC;2008AC0039)

摘　　要：目的对两个遗传性白内障家系进行遗传学调查,分析其遗传规律。方法对三峡库区病残儿进行医学鉴定,筛查遗传性白内障患儿,寻找具有家族史的先证者进行家系成员发病情况调查,确认他们的表型,绘制遗传系谱图,进行遗传学分析。结果发现2例遗传性白内障。家系共有3个患者,包括2男1女,呈3代连续遗传;家系共有4个患者,包括2男2女,呈4代连续遗传。结论发现了2个遗传性白内障家系,其遗传方式均为常染色体显性遗传。Objective To conduct survey to two genetic cataract families and analyze the genetic pattern. Methods Medical identification was conducted among the disable children of disease in Three Gorges Reservoir area to screen genetic cataract children and find the index case to conducted family survey of genetic cataract by determining their phenotype, drawing genetic pedigree chart and genetical analysis. Results Two index cases of genetic cataract in 2 families were Found. Family 1 had 3 patients （2 males and 1 female） in 3 generations. Family 2 had 4 patients （2 males and 2 females） in 4 generations. Conclusion Two genetic cataract families were found with the genetic pattern of autosomal dominant inheritance.

关 键 词：遗传性白内障 家系调查 常染色体显性遗传 

分 类 号：R776.1[医药卫生—眼科]