The gene encoding GABBR1 is not associated with childhood absence epilepsy in the Chinese Han population.
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.
Lu
Jianjun
J
Department of Pediatrics, Peking University First Hospital, No. 8 Xishiku Street, Beijing 100034, PR China.
Chen
Yucai
Y
Pan
Hong
H
Zhang
Yuehua
Y
Wu
Husheng
H
Xu
Keming
K
Liu
Xiaoyan
X
Jiang
Yuwu
Y
Bao
Xinhua
X
Shen
Yan
Y
Wu
Xiru
X
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
D018080:Receptors, GABA-B; D004247:DNA