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群体关联和外显率降低对简单遗传模型中观察到的和预期的基因型频率的影响:应用于HLA与胰岛素依赖型糖尿病

Effect of population associations and reduced penetrance on observed and expected genotype frequencies in a simple genetic model: application to HLA and insulin dependent diabetes mellitus.

作者信息

Falk C T, Mendell N R, Rubinstein P

出版信息

Ann Hum Genet. 1983 May;47(2):161-5. doi: 10.1111/j.1469-1809.1983.tb00983.x.

DOI:10.1111/j.1469-1809.1983.tb00983.x
PMID:6410972
Abstract

The observed and Hardy--Weinberg-expected frequencies for (HLA) marker heterozygotes in a disease population are calculated where it is assumed that the disease is caused by either homozygosity or heterozygosity (with reduced pentrance) for a disease susceptibility allele at a disease locus, that allele being positively associated with both of the relevant alleles at the marker locus (the single susceptibility allele model of Svejgaard & Ryder, 1981). It is shown that the observed frequency is always less than or equal to the H-W expectation, with the (observed/expected) ratio decreasing as the degree of dominance increases.

摘要

计算疾病群体中(人类白细胞抗原)标记杂合子的观察频率和哈迪 - 温伯格预期频率,其中假设该疾病是由疾病位点上疾病易感性等位基因的纯合性或杂合性(外显率降低)引起的,该等位基因与标记位点上的两个相关等位基因均呈正相关(Svejgaard和Ryder,1981年的单易感性等位基因模型)。结果表明,观察频率总是小于或等于哈迪 - 温伯格预期值,随着显性程度的增加,(观察值/预期值)比率降低。

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Effect of population associations and reduced penetrance on observed and expected genotype frequencies in a simple genetic model: application to HLA and insulin dependent diabetes mellitus.群体关联和外显率降低对简单遗传模型中观察到的和预期的基因型频率的影响:应用于HLA与胰岛素依赖型糖尿病
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引用本文的文献

1
Genetic heterogeneity of insulin-dependent (type I) diabetes mellitus: evidence from a study of extended haplotypes.胰岛素依赖型(I 型)糖尿病的遗传异质性:来自扩展单倍型研究的证据。
Am J Hum Genet. 1984 Sep;36(5):1015-23.