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胰岛素依赖型糖尿病的遗传学:与人类白细胞抗原相关的复杂遗传证据。

Genetics of IDDM: evidence for complex inheritance with HLA.

作者信息

Risch N

机构信息

Department of Epidemiology, Yale University School of Medicine, New Haven, Connecticut 06510.

出版信息

Genet Epidemiol. 1989;6(1):143-8. doi: 10.1002/gepi.1370060127.

DOI:10.1002/gepi.1370060127
PMID:2499501
Abstract

Analysis of the Fifth Genetic Analysis Workshop (GAW5) insulin-dependent diabetes mellitus (IDDM) data leads to the following conclusions: 1) With a maximum-likelihood affected sib pair method, there is strong evidence for linkage with HLA and no evidence for linkage with INS, Gm, or Km. 2) Susceptibility as defined by HLA genotypes is very complex. Each DR allele has a unique susceptibility, and DR3 and DR4 haplotype associations for DR 3/4 genotypes are different from those for 3/X and 4/X. 3) Risk is substantially higher in sibships with an affected father compared to those with an affected mother. This excess cannot be attributed to transmission distortion at HLA.

摘要

对第五届遗传分析研讨会(GAW5)的胰岛素依赖型糖尿病(IDDM)数据进行分析后得出以下结论:1)采用最大似然法分析患病同胞对数据,有充分证据表明与HLA存在连锁关系,而没有证据表明与INS、Gm或Km存在连锁关系。2)由HLA基因型定义的易感性非常复杂。每个DR等位基因都有独特的易感性,DR3/4基因型中DR3和DR4单倍型的关联与3/X和4/X基因型中的不同。3)与母亲患病的同胞相比,父亲患病的同胞患IDDM的风险要高得多。这种差异不能归因于HLA的传递扭曲。

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1
Genetics of IDDM: evidence for complex inheritance with HLA.胰岛素依赖型糖尿病的遗传学:与人类白细胞抗原相关的复杂遗传证据。
Genet Epidemiol. 1989;6(1):143-8. doi: 10.1002/gepi.1370060127.
2
Genes predisposing to IDDM in multiplex families.复杂家系中易患胰岛素依赖型糖尿病的基因。
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Autoimmune thyroid disease in type I diabetic families.1型糖尿病家族中的自身免疫性甲状腺疾病
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Clues to IDDM pathogenesis from genetic and serological traits in multiply affected families.来自多病例家庭中遗传和血清学特征的胰岛素依赖型糖尿病发病机制线索。
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Combined segregation and linkage analysis for IDDM and HLA-DR under several ascertainment assumptions.在几种确诊假设下对胰岛素依赖型糖尿病和HLA - DR进行联合分离分析和连锁分析。
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Am J Hum Genet. 2003 Sep;73(3):516-23. doi: 10.1086/378207. Epub 2003 Jul 29.
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