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情感障碍的遗传:数据与假说综述

The inheritance of affective disorders: a review of data and of hypotheses.

作者信息

Gershon E S, Bunney W E, Leckman J F, Eerdewegh M, DeBauche B A

出版信息

Behav Genet. 1976 Jul;6(3):227-61. doi: 10.1007/BF01065722.

Abstract

A genetic factor in affective disorders is suggested by twin and family history studies. The form of disorder (BP or UP) is transmitted within families. Early onset of affective disorder is associated with increased morbid risk of the disorder in relatives, but age at onset is not itself a transmitted factor. Female relatives have higher prevalence of illness, but sex of the ill person does not appear to be a factor in transmission. Genetic models of multifactorial or single-gene autosomal inheritance are compatible with some but not all of the family history studies reported. The hypothesis of sex-linked transmission of BP illness has been proposed, and some pedigrees compatible with X-linkage have been reported, but family studies do not suggest that this is generally present. Other possible modes of inheritance remain to be tested. Investigative strategies for identification of the "affective genotype" are discussed on the basis of biochemical, pharmacological, or other characteristics of persons with the disorders and their relatives, and on the basis of studies of known linkage markers.

摘要

双生子及家族史研究提示情感障碍存在遗传因素。情感障碍的类型(双相情感障碍或单相情感障碍)在家族内部具有传递性。情感障碍的早发与亲属中该疾病的发病风险增加相关,但发病年龄本身并非一个可传递的因素。女性亲属的患病率更高,但患病个体的性别似乎并非传递因素。多因素或单基因常染色体遗传的遗传模型与部分但并非所有已报道的家族史研究结果相符。有人提出双相情感障碍伴性连锁传递的假说,并且已报道了一些符合X连锁的家系,但家族研究并不表明其普遍存在。其他可能的遗传方式仍有待检验。基于情感障碍患者及其亲属的生化、药理学或其他特征,以及基于已知连锁标记的研究,讨论了识别“情感基因型”的研究策略。

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