[Association between familial febrile convulsions and HCN2 gene].
Zhonghua Yi Xue Za Zhi
; 85(10): 663-6, 2005 Mar 16.
Article
em Zh
| MEDLINE
| ID: mdl-15932727
ABSTRACT
OBJECTIVE:
To investigate the possible association of familial febrile convulsions with HCN2 gene.METHODS:
PCR was conducted on the DNA of peripheral blood white cells from 60 children with familial febrile convulsion (FC) of Han nationality population in northern China aged 1.5 +/- 1.0 (8 months to 5 years old), to amplify the exons of HCN2 gene. The PCR products underwent sequencing to identify the possible mutations. 101 normal children from the same area were used as controls.RESULTS:
No mutation was found in the exons of HCN2 gene, however, 14 single nucleotide polymorphisms (SNPs) were found among which there were 8 newly identified SNPs. Using 9 SNPs as markers, association study was conducted between the FC group and control group. There were no significant differences in allele frequencies and genotype frequencies of the 9 SNPs between the FC group and control group.CONCLUSION:
HCN2 may not be a susceptibility gene for FC in Chinese population.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Convulsões Febris
/
Canais Iônicos
/
Mutação
Tipo de estudo:
Risk_factors_studies
Limite:
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Idioma:
Zh
Ano de publicação:
2005
Tipo de documento:
Article