title: The gene encoding GABBR1 is not associated with childhood absence epilepsy in the Chinese Han population.
abstract: Childhood absence epilepsy (CAE) is considered to be a genetic disease, but the genes responsible for it have not yet been identified. To investigate whether or not the GABBR1 gene is a susceptibility gene for CAE in the Chinese Han population, we systematically screened all the 22 exons and nearby intron regions of the gene and found 12 single nucleotide polymorphisms (SNPs). Using four SNPs as markers, we conducted a case-control study in 96 CAE patients and 96 normal controls. There were no significant discrepancies between the cases and controls in allele and phenotype frequencies of the four SNPs. There were still no significant differences in haplotype distributions between the cases and controls. We postulate that the GABBR1 gene might not be a susceptibility gene for CAE at least in the Chinese population.
authors.affiliation: Department of Pediatrics, Peking University First Hospital, No. 8 Xishiku Street, Beijing 100034, PR China.
authors.forename: Jianjun
authors.initials: J
authors.lastname: Lu
authors.forename: Yucai
authors.initials: Y
authors.lastname: Chen
authors.forename: Hong
authors.initials: H
authors.lastname: Pan
authors.forename: Yuehua
authors.initials: Y
authors.lastname: Zhang
authors.forename: Husheng
authors.initials: H
authors.lastname: Wu
authors.forename: Keming
authors.initials: K
authors.lastname: Xu
authors.forename: Xiaoyan
authors.initials: X
authors.lastname: Liu
authors.forename: Yuwu
authors.initials: Y
authors.lastname: Jiang
authors.forename: Xinhua
authors.initials: X
authors.lastname: Bao
authors.forename: Yan
authors.initials: Y
authors.lastname: Shen
authors.forename: Xiru
authors.initials: X
authors.lastname: Wu
mesh_terms: D000483:Alleles; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002681:China / Q000453:epidemiology; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D004832:Epilepsy, Absence / Q000453:epidemiology / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics; D007962:Leukocytes / Q000737:chemistry; D008297:Male; D020641:Polymorphism, Single Nucleotide; D018080:Receptors, GABA-B / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D018080:Receptors, GABA-B; D004247:DNA