Genetic linkage analysis of the X chromosome in autism, with emphasis on the fragile X region

被引：24
作者：
Vincent, JB
Melmer, G
Bolton, PF
Hodgkinson, S
Holmes, D
Curtis, D
Gurling, HMD
机构：
[1] Ctr Addict & Mental Hlth, Neurogenet Sect, Toronto, ON M5T 1R8, Canada
[2] UCL, Windeyer Inst Med Sci, Dept Psychiat & Behav Sci, Mol Psychiat Lab, London, England
[3] Univ Cambridge, Dept Dev Psychiat, Cambridge, England
[4] Royal London Hosp, London E1 1BB, England
来源：
PSYCHIATRIC GENETICS | 2005年 / 15卷 / 02期
基金：
英国惠康基金;
关键词：
autism; X chromosome; linkage analysis; fragile X;
D O I：
10.1097/00041444-200506000-00004
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
The higher prevalence of autism in males than in females suggests the possible involvement of the X chromosome. To test the hypothesis that there are mutations increasing susceptibility to autism on the X chromosome, and in particular the distal portion of the long arm that encompasses the FMRI and MECP2 loci, a genetic linkage study was performed. Twenty-two fragile X-negative families multiplex for autism and related disorders were used for the study. Linkage analysis, for markers in the Xq27-q28 region, using model-free likelihood-based analysis, produced a maximum MLOD of 1.7 for the narrowest diagnostic category of the typical autism/severe autism spectrum, and nonparametric analysis produced a maximum non-parametric lod (NPL) score of 2.1 for a broad phenotype diagnostic model. Thus, this study offers modest support for a susceptibility locus for autism within the Xq27-q28 region. Further genetic investigations of this region are warranted. (c) 2005 Lippincott Williams & Wilkins.
引用
收藏
页码：83 / 90
页数：8
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