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人类肥胖基因图谱:1998年更新版。

The human obesity gene map: the 1998 update.

作者信息

Pérusse L, Chagnon Y C, Weisnagel J, Bouchard C

机构信息

Department of Social and Preventive Medicine, Faculty of Medicine, Laval University, Sainte-Foy, Québec, Canada.

出版信息

Obes Res. 1999 Jan;7(1):111-29. doi: 10.1002/j.1550-8528.1999.tb00398.x.

Abstract

An update of the human obesity gene map incorporating published results up to the end of October 1998 is presented. Evidence from the human obesity cases caused by single gene mutations; other Mendelian disorders exhibiting obesity as a clinical feature; quantitative trait loci uncovered in human genome-wide scans and in crossbreeding experiments with mouse, rat, and pig models; association and case-control studies with candidate genes; and linkage studies with genes and other markers is reviewed. The most noticeable changes from the 1997 update is the number of obesity cases due to single gene mutations that increased from three cases due to mutations in two genes to 25 cases due to 12 mutations in seven genes. A look at the obesity gene map depicted in Figure 1 reveals that putative loci affecting obesity-related phenotypes are found on all but chromosome Y of the human chromosomes. Some chromosomes show at least three putative loci related to obesity on both arms (1, 2, 3, 6, 7, 8, 9, 11, 17, 19, 20, and X) and several on one chromosome arm only (4q, 5q, 10q, 12q, 13q, 15q, 16p, and 22q). The number of genes and other markers that have been associated or linked with human obesity phenotypes is increasing very rapidly and now approaches 200.

摘要

本文呈现了一份人类肥胖基因图谱的更新内容,其中纳入了截至1998年10月底已发表的研究成果。文中回顾了来自以下方面的证据:由单基因突变导致的人类肥胖病例;表现出肥胖这一临床特征的其他孟德尔疾病;在人类全基因组扫描以及与小鼠、大鼠和猪模型的杂交实验中发现的数量性状基因座;与候选基因相关的关联研究和病例对照研究;以及与基因和其他标记的连锁研究。与1997年的更新相比,最显著的变化是单基因突变导致的肥胖病例数量增加,从两个基因的突变导致的3例增加到7个基因的12个突变导致的25例。查看图1所示的肥胖基因图谱可知,除了人类Y染色体外,在其他所有染色体上均发现了影响肥胖相关表型的假定基因座。一些染色体在两条臂上至少显示出三个与肥胖相关的假定基因座(1、2、3、6、7、8、9、11、17、19、20和X染色体),而在某些染色体上仅在一条染色体臂上有几个(4q、5q、10q、12q、13q、15q、16p和22q)。已与人类肥胖表型相关联或连锁的基因和其他标记的数量正在迅速增加,目前已接近200个。

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The human obesity gene map: the 1998 update.人类肥胖基因图谱:1998年更新版。
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