多囊卵巢综合征家系遗传方式研究

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139PCOS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0．3023，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，纯合致病基因频率为0．046。结论 PCOS呈共显性遗传方式。

Study on the mode of inheritance for familial polycystic ovary syndrome

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.