Mapping of a familial essential tremor gene, FET1, to chromosome 3q13

被引:203
作者
Gulcher, JR
Jonsson, P
Kong, A
Kristjansson, K
Frigge, ML
Karason, A
Einarsdottir, IE
Stefansson, H
Einarsdottir, AS
Sigurdardottir, S
Baldursson, S
Bjornsdottir, S
Hrafnkelsdottir, SM
Jakobsson, F
Benedickz, J
Stefansson, K
机构
[1] DECODE GENET, IS-110 REYKJAVIK, ICELAND
[2] UNIV CHICAGO, DEPT STAT, CHICAGO, IL 60637 USA
[3] REYKJAVIK HOSP, DEPT NEUROL, IS-108 REYKJAVIK, ICELAND
[4] NATL HOSP ICELAND, DEPT NEUROL, IS-101 REYKJAVIK, ICELAND
关键词
D O I
10.1038/ng0997-84
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Essential tremor (ET), the most common movement disorder in humans, appears to be inherited as an autosomal dominant trait in many families(1,2). The familial form is called familial essential tremor (FET), which seems similar to sporadic essential tremor. ET is a cause of substantial disability, particularly in the elderly(1). The prevalence of Parkinson's disease and dystonia may be increased in families with ET, but other movement disorders are seldom encountered in these families(3,4). Here we report the results of a genome-wide scan for FET genes in 16 Icelandic families with 75 affected individuals, in whom FET was apparently inherited as a dominant trait. The scan, which was performed with a 10-cM framework map, revealed one locus on chromosome 3q13 to which FET mapped with a genome-wide significance when the data were analysed either parametrically, assuming an autosomal dominant model (Iod score = 3.71), or non-parametrically (NPL Z score = 4.70. P < 6.4 x 10(6)).
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页码:84 / 87
页数:4
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