遗传 ›› 2003, Vol. 25 ›› Issue (6): 637-640.

• 论文 • 上一篇    下一篇

家族高发性2型糖尿病的遗传模式研究

王劲松1;周玲1;成金罗2;沈默宇2 WANG Jin-Song1;ZHOU Ling1;CHENG Jin-Luo2;SHEN Mo-Yu2   

  1. 1.南京医科大学流行病与卫生统计学系,南京 210029; 2.常州市第二人民医院内分泌科,常州 213003 1.Department of Epidemiology,Nanjing Medical University,Nanjing 210029,China; 2.Department of Endocrines,Changzhou Second Hospital,Changzhou 213003,China
  • 收稿日期:1900-01-01 出版日期:2003-12-10 发布日期:2003-12-10

Studies on Genetic Model in Familial Type 2 Diabetes Mellitus

  • Received:1900-01-01 Online:2003-12-10 Published:2003-12-10

摘要: 对1999~2000年门诊及住院的家族高发性2型糖尿病患者为先证者的136个大家系进行研究,以探讨该病的遗传模式。对家系人群采用Falconer 法估算遗传率,用Penrose法进行多基因分析,并用S.A.G.E-REGD软件拟合A型回归Logistic模型进行复合分离分析的方法,对家族高发性2型糖尿病家系进行研究。结果表明,136个大家系的2型糖尿病遗传率为94.07%±5.84%,提示在这些家系中可能有显性主基因存在。多基因分析研究表明,在该人群中,2型糖尿病因性别不同而存在两种遗传模式。复合分离分析拒绝单纯环境模型、非传递模型、共显性模型,接受隐性模型和显性模型,但隐性模型为最佳遗传模式。因此,2型糖尿病具有高度的遗传性和遗传异质性,总体表现为多因子遗传,在部分遗传背景较一致的家系人群中可能存在由主要基因决定的常染色体显性遗传。
Abstract:This study is to explore the genetic model of type 2 diabetes mellitus (type 2 DM) among the hereditary family.One hundred and thirty-six pedigrees of familial type 2 DM were studied.The heritability of type 2 DM was estimated according to Falconer's method and the multi-factorial inheritance analyzed according to Penrose's method.Complex segregation analysis was performed using S.A.G.E-REGD.The heritability of familial type 2 DM was 9407%±5.84%.Dominant major gene might influence the genesis of type 2 DM.Analysis of multi-factorial inheritance indicated that there be two genetic patterns respectively in male and female populations.By complex segregation analysis,environment,non-transmitted and co-dominant inheritance were rejected.Autosomal dominant (AD) inheritance and autosomal recessive (AR) inheritance was accepted but AR inheritance was the best pattern.This study suggested that type 2 DM had significant heritability and genetic heterogeneity,which appeared to be a disease of multi-factorial inheritance generally and autosomal dominant (AD) inheritance in part of pedigrees.

关键词: genetic model, heritability 2型糖尿病, complex segregation analysis,
Key words,
type 2 diabetes mellitus