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目的了解先天性绕核性白内障家族遗传特征和细胞遗传学特点。方法对４个常染色体显性遗传家系及其先证者进行系谱和染色体核型分析。结果先天性绕核性白内障遗传属质量性状，为单基因遗传病；该病发病：患病／未患病＝１１／１０；男／女＝７／４；表现为连续传递，且以完全显性遗传为主；少数家系表现为不规则显性遗传，外显率为１１／１６（６８７５％）；该型白内障核型组成：４４＋ＸＹ（ＸＸ），第１号染色体相对长度和着丝粒指数低于正常，臂比高于正常。结论先天性绕核性白内障临床遗传以常染色体显性为主，其形成有特定的细胞遗传学基础。
Objective To understand the genetic characteristics and cytogenetic characteristics of the congenital nucleus-cataract family. Methods Pedigree and karyotype analysis of four autosomal dominant genetic families and their probands. Results Congenital nuclear nucleus cataracts is a quality trait gene, single genetic disease; the disease incidence / prevalence = 11/10; male / female = 7/4; showed a continuous transmission, The genetic predominance of sex was dominant. The minority families showed irregular dominant inheritance with the penetrance of 11/16 (6875%). The karyotype of this type of cataract consisted of 44 + XY (XX) Grain index below normal, arm ratio higher than normal. Conclusion The clinical inheritance of congenital nucleus-cataract is dominated by autosomal dominant. Its formation has specific cytogenetics.