多囊卵巢综合征家系遗传方式研究  

Study on the mode of inheritance for familial polycystic ovary syndrome

作　　者：毛文伟[1] 李美芝[1] 陈咏健[1] 卢春华[1] 王颖[1] 张小为[1] 乔杰[1] 王霭明[2] 

机构地区：[1]北京医科大学第三医院妇产科,100083 [2]海军总医院妇产科

出　　处：《中华医学遗传学杂志》2001年第1期21-23,共3页Chinese Journal of Medical Genetics

摘　　要：目的　探讨多囊卵巢综合征 (polycystic ovary syndrome,PCOS)的遗传方式。方法　采用遗传流行病学中的简单分离分析和综合分离分析方法 ,对 139例 PCOS患者一级亲属中女性月经不规律和男性早秃的发生情况进行分离比分析。结果　女性月经不规律在患者母亲和姐妹中的发生率分别为37.4%和 33.1% ;男性早秃在患者父亲和兄弟中的发生率分别为 19.4%和 6 .5 % ;简单分离分析显示PCOS在子代的分离比为 0 .30 2 3,综合分离分析显示其符合共显性完全外显有散发遗传模型 ,纯合致病基因率频为 0 .0 46。结论　Objective To investigate the mode of inheritance of polycystic ovary syndrome(PCOS).Methods The first female relatives with irregular cycle and the first male relatives with premature balding in each nuclear family were designated the affected. Their prevalence rates in families were respectively calculated. Analyses of segregation ratio were carried out among 139 nuclear families with PCOS by the methods of simple segregation and complex segregation of genetic epidemiology, respectively.Results The prevalence rates of irregular cycle among mothers and sisters with PCOS were 37.4% and 33.1% respectively, and the prevalence rates of premature balding among fathers and brothers of patients were 19.4% and 6.5%, respectively. The simple segregation analysis indicated that the segregation ratio of PCOS trait in siblings was 0.3023, the complex segregation analysis indicated that it fitted in with the inheritance model of co dominant disorder with full penetrance and sporadic cases. The frequency of homozygote of disease gene in population was 0.046.Conclusion PCOS presents the mode of co dominant inheritance with complete penetrance.

关 键 词：多囊卵巢综合征 遗传方式 共显性遗传 

分 类 号：R596[医药卫生—内科学]