Heterozygosity Effects in Studies of Genetic Markers and Disease
作者:
L. Beckman,
N. Fröhlander,
期刊:
Human Heredity
(Karger Available online 1990)
卷期:
Volume 40,
issue 6
页码: 322-329
ISSN:0001-5652
年代: 1990
DOI:10.1159/000153955
出版商: S. Karger AG
关键词: Genetic markers;Heterozygosity effect;Disease association;Hardy-Weinberg equilibrium
数据来源: Karger
摘要:
Examples were discussed where heterozygosity was associated with increased or decreased disease risks and where the apparent mechanism is direct functional involvement of gene products and not linkage disequilibrium. Special attention was paid to the impact of Hp (haptoglobin) heterozygosity on a number of different multifactorial disorders. When phenotype distributions in patients show large deviations from the Hardy-Weinberg equilibrium significant differences between patients and controls may be found concerning phenotype distributions but not with respect to the frequencies of alleles and phenotypic factors. The common method of studying ratios of phenotypic factors by pooling homo- and heterozygotes is in principle a conservative approach which tends to underestimate the strength of associations and to obscure heterozygosity effects. A significant deviation from the Hardy-Weinberg equilibrium in a marker system examined in a group of patients is in itself a sensitive indicator of phenotypic association with the disease in question.
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