Johnson E W, Dubovsky J, Rich S S, O'Donovan C A, Orr H T, Anderson V E, Gil-Nagel A, Ahmann P, Dokken C G, Schneider D T, Weber J L
Neurogenetics/Neuropharmacology, Center for Medical Genetics and Marshfield Clinic, Marshfield, WI 54449, USA.
Hum Mol Genet. 1998 Jan;7(1):63-7. doi: 10.1093/hmg/7.1.63.
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.
热性惊厥是儿童期癫痫发作的常见形式。据估计,2%至5%的儿童在5岁前会发生热性惊厥。长期以来人们认识到,这种类型的癫痫易感性存在显著的遗传因素。华莱士、伯克维奇及其同事最近报告了一个推定的常染色体显性热性惊厥基因与8号染色体q13 - 21的连锁关系。我们在此报告19号染色体p臂上另一个常染色体显性热性惊厥基因座。在这个大型多代家族中进行的连锁分析显示,与位于D19S177基因座的标记Mfd120的最大成对lod分数为4.52。该家族排除了与8号染色体基因座的连锁关系。使用患病和未患病家庭成员进行的单倍型分析表明,我们称为FEB2的这个热性惊厥基因可定位于19号染色体p13.3上一个11.7厘摩、1 - 2兆碱基的区域,位于D19S591和D19S395基因座之间。