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阿尔茨海默病中的遗传异质性:隶属度分析

Genetic heterogeneity in Alzheimer's disease: a grade of membership analysis.

作者信息

Corder E H, Woodbury M A

机构信息

Department of Medicine, Duke University Medical Center, Durham, NC 27710.

出版信息

Genet Epidemiol. 1993;10(6):495-9. doi: 10.1002/gepi.1370100628.

DOI:10.1002/gepi.1370100628
PMID:8314050
Abstract

Grade of membership analysis (GoM) may have particular relevance for genetic epidemiology. The method can flexibly relate genetic markers, clinical features, and environmental exposures to possible subtypes of disease termed pure types even when population allele frequencies and penetrance functions are not known. Hence, GoM may complement existing strategies that sometimes fail in the presence of heterogeneity or when case definition is not well established. To illustrate the method, individuals in the Seattle data set were evaluated with respect to affection status, age at onset, pedigree, sex, and genetic markers on chromosomes 19 and 21. Seven pure types were found which we have designated as: Early Onset, Late Onset, Probable, and Unaffected 1 to Unaffected 4.

摘要

隶属度分析(GoM)可能对遗传流行病学具有特殊意义。即使在群体等位基因频率和外显率函数未知的情况下,该方法也能灵活地将遗传标记、临床特征和环境暴露与称为纯类型的疾病可能亚型联系起来。因此,GoM可以补充现有策略,这些策略有时在存在异质性或病例定义不明确时会失效。为了说明该方法,对西雅图数据集中的个体在患病状态、发病年龄、家系、性别以及19号和21号染色体上的遗传标记方面进行了评估。发现了七种纯类型,我们将其指定为:早发型、晚发型、可能型以及未患病1至未患病4型。

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1
Genetic heterogeneity in Alzheimer's disease: a grade of membership analysis.阿尔茨海默病中的遗传异质性:隶属度分析
Genet Epidemiol. 1993;10(6):495-9. doi: 10.1002/gepi.1370100628.
2
The Seattle Alzheimer's disease data set.西雅图阿尔茨海默病数据集。
Genet Epidemiol. 1993;10(6):365-9. doi: 10.1002/gepi.1370100606.
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Linkage of Alzheimer's disease to chromosome 21 and chromosome 19 markers: effect of age of onset assumptions.阿尔茨海默病与21号染色体和19号染色体标记的连锁关系:发病年龄假设的影响
Genet Epidemiol. 1993;10(6):449-54. doi: 10.1002/gepi.1370100620.
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Sib-pair linkage analyses of Alzheimer's disease.阿尔茨海默病的同胞对连锁分析。
Genet Epidemiol. 1993;10(6):371-6. doi: 10.1002/gepi.1370100607.
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Analysis of discrete phenotypes using a multipoint identity-by-descent method: application to Alzheimer's disease.使用多点同源性方法分析离散表型:应用于阿尔茨海默病
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Genetic analysis of Alzheimer's disease: a summary of contributions to GAW8.阿尔茨海默病的遗传分析:GAW8研究贡献总结
Genet Epidemiol. 1993;10(6):349-60. doi: 10.1002/gepi.1370100604.
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Susceptibility genes for familial Alzheimer's disease on chromosomes 19 and 21: a reality check.19号和21号染色体上家族性阿尔茨海默病的易感基因:现状核查
Genet Epidemiol. 1993;10(6):425-30. doi: 10.1002/gepi.1370100616.
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Linkage detection by the Affected-Pedigree-Member method: what is really tested?通过患病家系成员法进行连锁检测:究竟检测的是什么?
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A two-locus model for familial Alzheimer's disease?家族性阿尔茨海默病的双基因座模型?
Genet Epidemiol. 1993;10(6):437-41. doi: 10.1002/gepi.1370100618.
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Combined segregation and linkage analysis of late-onset Alzheimer's disease in Duke families using Gibbs sampling.利用吉布斯抽样对杜克家族中晚发性阿尔茨海默病进行联合分离分析和连锁分析。
Genet Epidemiol. 1993;10(6):489-94. doi: 10.1002/gepi.1370100627.

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