Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest

被引:155
作者
Johnson, EW [1 ]
Dubovsky, J
Rich, SS
O'Donovan, CA
Orr, HT
Anderson, VE
Gil-Nagel, A
Ahmann, P
Dokken, CG
Schneider, DT
Weber, JL
机构
[1] Ctr Med Genet, Marshfield, WI 54449 USA
[2] Marshfield Clin, Marshfield, WI 54449 USA
[3] Wake Forest Univ, Bowman Gray Sch Med, Dept Publ Hlth Sci & Neurol, Winston Salem, NC 27157 USA
[4] Univ Minnesota, MINCEP, Minneapolis, MN 55455 USA
[5] Univ Minnesota, Inst Human Genet, Minneapolis, MN 55455 USA
[6] Univ Minnesota, Dept Lab Med & Pathol, Minneapolis, MN 55455 USA
[7] Rush Epilepsy Ctr, Chicago, IL 60612 USA
[8] St Anna Childrens Hosp, Childrens Canc Res Inst, A-1090 Vienna, Austria
关键词
D O I
10.1093/hmg/7.1.63
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Febrile convulsions are a common form of childhood seizure, It is estimated that between 2 and 5% of children will have a febrile convulsion before the age of 5. It has long been recognized that there is a significant genetic component for susceptibility to this type of seizure. Wallace, Berkovic and co-workers recently reported linkage of a putative autosomal dominant febrile convulsion gene to chromosome 8q13-21. We report here another autosomal dominant febrile convulsion locus on chromosome 19p. Linkage analysis in this large multi-generational family gave a maximum pairwise lod score of 4.52 with marker Mfd120 at locus D19S177. Linkage to the chromosome 8 locus was excluded in this family, Haplotype analysis using both affected and unaffected family members indicates that this febrile convulsion gene, which we call FEB2, can be localized to an 11.7 cM, 1-2 Mb section of chromosome 19p13.3, between loci D19S591 and D19S395.
引用
收藏
页码:63 / 67
页数:5
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