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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 investigate the genetics of two hereditary cataract families and analyze their genetic rules. Methods Medical identification of disabled children in the Three Gorges Reservoir Area, screening of children with inherited cataract, searching for probands with family history to investigate the incidence of family members, confirming their phenotype, mapping genealogy, and carrying out genetic analysis . Two cases of hereditary cataract were found. A total of 3 pediatric patients, including 2 males and 1 females, were 3 generations of continuous inheritance; family a total of 4 patients, including 2 males and 2 females, was 4 generations of continuous inheritance. Conclusions Two families of inherited cataracts were found, whose inheritance patterns were autosomal dominant.