| 彭惠民,张素华,李晨钟,吴静,叶文春.家族性Ⅱ型糖尿病核心家系的遗传方式分析[J].中华流行病学杂志,2000,21(4):270-272 |
| 家族性Ⅱ型糖尿病核心家系的遗传方式分析 |
| Analysis on genetic pattern of familial type Ⅱ diabetes mellitus |
| 收稿日期:1999-10-21 出版日期:2014-09-16 |
| DOI： |
| 中文关键词: 糖尿病,非胰岛素依赖型 遗传学 限阈值 |
| 英文关键词: Non-insulin-dependent diabetes mellitus Genetics Threshold limit values |
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| 中文摘要: |
| 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214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143.06%±3.3%，提示在这些家系中有一个显性主基因存在。214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0.671 2。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。 |
| 英文摘要: |
| Objective To analyse hereditary familial type Ⅱ diabetes mellitus (type Ⅱ DM), including its pattern and the transmitted expression on different sex of type Ⅱ DM.Methods Familial analysis, segregation analysis, tests were used for multifactorial inheritance and threshold analysis. One hundred seventy-seven pedigrees of familial type Ⅱ DM were studied.Results The heritability of familial type Ⅱ DM was 143.06%±3.3%. One dominant major gene might influence the genesis of type Ⅱ DM. There were 214 nuclear families in 3 different mating types: U×U, U×A and A×A. The segregation ratios of U×U,U×A and A×A were 0.470 3,0.483 8 and 0.671 2 respectively. The Results of tests for multifactorial inheritance and segregation analysis indicated that the genetic pattern of U×A and A×A nuclear families was not multifactorial inheritant and autosomal recessive (AR) but autosomal dominant (AD) inheritance. The genetic pattern of U×U nuclear families was neither AD nor AR inheritance. Conclusion There was genetic heterogeneity in type Ⅱ DM discovered with subgroupes of autosomal dominant inheritance in type Ⅱ DM. |
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