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Pc 1杜阿尔特,一种人类脑蛋白的常见多态性,及其与抑郁症和多发性硬化症的关系。

Pc 1 Duarte, a common polymorphism of a human brain protein, and its relationship to depressive disease and multiple sclerosis.

作者信息

Comings D E

出版信息

Nature. 1979 Jan 4;277(5691):28-32. doi: 10.1038/277028a0.

DOI:10.1038/277028a0
PMID:552595
Abstract

Pc 1 Duarte, a common variant of a human brain-specific protein, is present in one-third of the control population and has a gene frequency of 0.17. There was a significantly increased frequency of mutant heterozygotes and homozygotes among individuals with depressive disease. This is consistent with a model in which Pc 1 Duarte is the major gene in depressive disease, acting in conjunction with an environmental threshold effect.

摘要

Pc 1杜阿尔特是一种人类大脑特异性蛋白质的常见变体,在三分之一的对照人群中存在,基因频率为0.17。在患有抑郁症的个体中,突变杂合子和纯合子的频率显著增加。这与一种模型一致,即Pc 1杜阿尔特是抑郁症的主要基因,与环境阈值效应共同起作用。

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