Evaluation of the positional candidate gene CHRNA7 at the juvenile myoclonic epilepsy locus (EJM2) on chromosome 15q13–14

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• 作者：Taske ; Nichole L. ; Williamson ; Magali P. ; Makoff ; Andrew ; Bate ; Louise ; Curtis ; David ; Kerr ; Michael ; et. al.
• 关键词：Epilepsy ; Neurogenetics ; Chromosome 15 ; Acetylcholine receptor ; Gene duplications
• 刊名：Epilepsy Research
• 出版年：2002
• 期刊代码：87_09201211
• 类别：med
• 出版时间：April, 2002
• 卷：49
• 期：2
• 页码：157-172
• 文件大小：337 K

摘要

A previous study of 34 nuclear pedigrees segregating juvenile myoclonic epilepsy (JME) gave significant evidence of linkage with heterogeneity to marker loci on chromosome 15q13–14 close to the candidate gene CHRNA7 (Hum. Mol. Genet. 6 (1997) 1329). The aim of this work was to further evaluate the putative aetiological role of CHRNA7 in JME within the 34 families originally described, and to assess the contribution of this locus to a broader phenotype of idiopathic generalised epilepsy (IGE). Multipoint linkage analysis and intrafamilial association studies were performed with microsatellite markers that encompass both CHRNA7 and its partial duplication (CHRFAM7A). A maximum HLOD of 3.45 [α