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从达吉斯坦遗传隔离人群(俄罗斯北高加索地区)中确定多重精神分裂症家系。

The ascertainment of multiplex schizophrenia pedigrees from Daghestan genetic isolates (Northern Caucasus, Russia).

作者信息

Bulayeva K B, Leal S M, Pavlova T A, Kurbanov R, Coover S, Bulayev O, Byerley W

机构信息

N.I. Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow.

出版信息

Psychiatr Genet. 2000 Jun;10(2):67-72. doi: 10.1097/00041444-200010020-00002.

Abstract

This article describes the preliminary ascertainment of multiplex schizophrenia pedigrees from the isolated mountain region of Daghestan (Northern Caucasus, Russia). Daghestan has a population of two million people and contains 26 aboriginal ethnic groups. Many of the ethnic groups reside in remote mountain villages that can be classified as 'primary isolates'. Prolonged reproductive isolation and severe environmental conditions in the highlands have created diverse, genetically isolated ethnic populations in Daghestan. A number of the isolates in this region contain large extended multiplex schizophrenia pedigrees that are ideal for genetic analyses. During summer expeditions of 1996 and 1997, 14 separate large multiplex schizophrenia pedigrees were ascertained from 14 different mountain villages. Of the 14 kindreds, one had 50 schizophrenic cases available for ascertainment, one had 32, and another had 24. Seven of the remaining pedigrees had between 11 and 23 living cases. Within the kindreds, the number of males with chronic schizophrenia was at least twice that of females. The average age of onset of schizophrenia is 21.2 years for offspring of consanguineous marriages and 17.4 years for offspring of nonconsanguineous marriages (P = 0.033). Although the pedigrees ascertained from the remote mountain villages may not be representative of the general population, they are unique kindreds for mapping schizophrenia susceptibility genes.

摘要

本文描述了对来自达吉斯坦(俄罗斯北高加索地区)偏远山区的多重精神分裂症家系的初步鉴定。达吉斯坦有200万人口,包含26个原住民族群。许多族群居住在偏远的山村,这些山村可被归类为“原始隔离群体”。高地长期的生殖隔离和恶劣的环境条件在达吉斯坦造就了多样化的、基因隔离的族群。该地区的一些隔离群体包含大型的多重精神分裂症家系,非常适合进行基因分析。在1996年和1997年的夏季考察中,从14个不同的山村鉴定出了14个独立的大型多重精神分裂症家系。在这14个家系中,一个有50例可确诊的精神分裂症病例,一个有32例,另一个有24例。其余7个家系有11至23例在世病例。在这些家系中,患有慢性精神分裂症的男性数量至少是女性的两倍。近亲结婚后代精神分裂症的平均发病年龄为21.2岁,非近亲结婚后代为17.4岁(P = 0.033)。尽管从偏远山村鉴定出的家系可能不代表一般人群,但它们是用于绘制精神分裂症易感基因图谱的独特家系。

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