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目的 对 1992～ 1998年门诊及住院的家族性Ⅱ型糖尿病 (DM)患者 177个大家系及其中 2 14个核心家系的遗传方式进行研究 ,以探讨该病的遗传学特点。方法 采用家系分析、分离分析、多基因分析和阈值模式分析的方法 ,对家族性Ⅱ型DM大家系及核心家系进行研究。结果 177个大家系的Ⅱ型DM的遗传度为 143.0 6 %± 3 .3% ,提示在这些家系中有一个显性主基因存在。 2 14个核心家系中 ,U×U婚配型的子代分离比为 0 .470 3,U×A婚配型的分离比为 0 .483 8,A×A婚配型的分离比为 0 .6 712。多基因分析和分离分析显示 ,U×A家系不符合多基因遗传和常染色体隐性(AR)遗传 ,符合常染色体显性 (AD)遗传 ,U×U家系既不符合AD遗传 ,又不符合AR遗传。结论 家族性Ⅱ型DM的遗传方式表现遗传异质性 ,在部分家系中存在AD遗传的亚型
Objective To study the genetic patterns of 177 pedigrees and 2 14 nuclear families in outpatients and inpatients with familial type 2 diabetes mellitus (DM) from 1992 to 1998 in order to investigate the genetic characteristics of the disease. Methods The familial type Ⅱ DM pedigrees and their nuclear families were studied using pedigree analysis, segregation analysis, multiple gene analysis and threshold mode analysis. Results The heritability of type Ⅱ DM in 177 pedigrees was 143.0 6% ± 3.3%, suggesting a dominant gene in these families. Among 14 14 core families, the segregation ratio of offspring of U × U marriage type was 0.703, the segregation ratio of U × A marriage type was 0.483 8, the segregation ratio of A × A marriage type was 0.6712 . Multi-gene analysis and segregation analysis showed that U × A pedigrees did not accord with polygenetic and autosomal recessive (AR) inheritance, consistent with autosomal dominant (AD) inheritance. U × U pedigrees did not accord with AD inheritance, AR genetic. Conclusion The genetic pattern of familial type II DM is characterized by genetic heterogeneity. In some pedigrees, the genetic type of AD