Association study between simple febrile seizures and gabbr1 gene and gabbr2 gene
10.3760/cma.j.issn.2095-428X.2014.12.004
- VernacularTitle:单纯性热性惊厥与gabbr1基因和gabbr2基因的相关研究
- Author:
Yujie LI
;
Yinan MA
;
Yu QI
;
Junyi WANG
;
Liping ZOU
- Publication Type:Journal Article
- Keywords:
gabbr1 gene;
gabbr2 gene;
Febrile seizures;
Haplotype
- From:
Chinese Journal of Applied Clinical Pediatrics
2014;29(12):891-894
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate whether the gamma-aminobutyric acid (GABAB) receptor genes,including gabbr1 gene and gabbr2 gene,are the susceptible genes for simple febrile seizures (sFS) by screening mutation of gabbr1 gene and gabbr2 gene and to study the possible association between sFS and the 2 genes.Methods All exons and flanking introns of gabbr1 gene and gabbr2 gene were amplified with polymerase chain reaction (PCR) and sequenced to screen the possible mutation on 60 children with sFS in the northern China in Han nationality population.One hundred and one healthy children from the same area were selected as controls,and the genotypes of single nucleotiole polymorphisms (SNPS) (rs29220,rs29230,rs29267 on gabbr1 gene and rs1000440,rs3205936,rs2304391 on gabbr2 gene) were typed by PCR-restriction fragment length polymorphism.EH1.20 software was used to estimate haplotype frequency to study the association with the haplotype as genetic marker between case group and control group.Results No mutation associated with sFS was found in the 60 sFS cases.In all sequenced regions,23 SNPs were identified in both genes:6 SNPs in gabbr1 gene and 17 SNPs in gabbr2 gene.The frequencies of the 6 SNPs were complied well with the Hardy-weinberg equilibrium in sFS group and normal group.Genotype proportions and allele frequencies of 6 SNPs were not significantly different between both groups.The haplotypes of 3 SNPs in gabbr1 gene and in gabbr2 gene distributions were not significantly different between 2 groups.Conclusions No mutations and associations were identified between sFS with both GABAB receptor genes(gabbr1 gene and gabbr2 gene).They may not be the susceptibility gene for simple febrile seizures in Han nationality population in northern China.
