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患病同胞法。I. 患病同胞对法的统计特征。

The affected sib method. I. Statistical features of the affected sib-pair method.

作者信息

Motro U, Thomson G

出版信息

Genetics. 1985 Jul;110(3):525-38. doi: 10.1093/genetics/110.3.525.

DOI:10.1093/genetics/110.3.525
PMID:4018570
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1202579/
Abstract

The distribution of the number of HLA haplotypes shared by sibs affected with the same HLA-linked disease can be used to obtain information on the genetics of the disease. Since the inception of the use of sib-pair methods for the analysis of the HLA-associated diseases, the question has been raised of how to include families with more than two affected sibs in the sib-pair analysis. This paper presents appropriate weighting schemes. A procedure for estimating the frequency of the disease allele in the general population, under the assumptions of single-allele recessive, additive, dominant and intermediate models, with negligible recombination (theta = 0) between the disease-predisposing gene and the HLA region, and no selective disadvantage of the trait, is also given. Cluster-sampling techniques are used in the analysis.

摘要

患有相同HLA相关疾病的同胞所共享的HLA单倍型数量分布可用于获取该疾病遗传学方面的信息。自从开始使用同胞对方法分析HLA相关疾病以来,就出现了如何将有两个以上患病同胞的家庭纳入同胞对分析的问题。本文提出了合适的加权方案。还给出了一种在单等位基因隐性、加性、显性和中间模型假设下,估计疾病等位基因在一般人群中的频率的程序,其中疾病易感基因与HLA区域之间的重组可忽略不计(θ = 0),且该性状无选择劣势。分析中使用了整群抽样技术。

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本文引用的文献

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A review of theoretical aspects of HLA and disease associations.人类白细胞抗原(HLA)与疾病关联的理论方面综述。
Theor Popul Biol. 1981 Oct;20(2):168-208. doi: 10.1016/0040-5809(81)90009-5.
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HLA and disease: predictions for HLA haplotype sharing in families.人类白细胞抗原与疾病:家庭中人类白细胞抗原单倍型共享的预测
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Two locus models for gluten sensitive enteropathy: population genetic considerations.麸质敏感性肠病的双基因座模型:群体遗传学考量
Am J Med Genet. 1981;8(2):205-14. doi: 10.1002/ajmg.1320080211.
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Genetics of Type I diabetes mellitus: a single, recessive predisposition gene mapping between HLA-B and GLO. With an appendix on the estimation of selection bias.1型糖尿病的遗传学:一个位于HLA - B和GLO之间的隐性易感基因。附录:选择偏倚的估计
Am J Hum Genet. 1981 Nov;33(6):865-82.
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Evidence for recessive and against dominant inheritance at the HLA-"linked" locus in coeliac disease.乳糜泻中HLA“连锁”位点隐性遗传及非显性遗传的证据。
Am J Hum Genet. 1982 Mar;34(2):263-77.
6
Some epistatic two-locus models of disease. II. The confounding of linkage and association.一些疾病的上位性双基因座模型。II. 连锁与关联的混杂
Am J Hum Genet. 1981 May;33(3):396-406.
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8
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