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学科主题: 妇产科学
题名:
多囊卵巢综合征家系遗传方式研究
其他题名: Study on the mode of inheritance for familial polycystic ovary syndrome
作者: 毛文伟; 李美芝; 陈咏健; 卢春华; 王颖; 张小为; 乔杰; 王霭明
关键词: 多囊卵巢综合征 ; 遗传方式 ; 共显性遗传
刊名: 中华医学遗传学杂志
发表日期: 2001
DOI: 10.3760/j.issn:1003-9406.2001.01.007
卷: 18, 期:1, 页:21-23
收录类别: 中国科技核心期刊 ; 中文核心期刊 ; CSCD
文章类型: Journal Article
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0.3023,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,纯合致病基因率频为0.046。结论 PCOS呈共显性遗传方式。 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.
语种: 中文
原文出处: 查看原文
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内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/70285
Appears in Collections:北京大学第三临床医学院_妇产科_期刊论文

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作者单位: 1.北京医科大学第三医院妇产科
2.海军总医院妇产科

Recommended Citation:
毛文伟,李美芝,陈咏健,等. 多囊卵巢综合征家系遗传方式研究[J]. 中华医学遗传学杂志,2001,18(1):21-23.
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