[Association between familial febrile convulsions and HCN2 gene].
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.


CONCLUSIONS
HCN2 may not be a susceptibility gene for FC in Chinese population.
Ma
Yi-Nang
YN
Department of Pediatrics, First Hospital of Peking University, Beijing 100034, China.
Chen
Zhi-Yue
ZY
Zou
Li-Pin
LP
Zhang
Ying
Y
Niu
Shu-Lan
SL
Xu
Yu-Feng
YF
Pei
Pei
P
Bu
Ding-Fang
DF
Qi
Yu
Y
D000483:Alleles; D002675:Child, Preschool; D005091:Exons; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D064428:Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels; D007223:Infant; D007473:Ion Channels / Q000096:biosynthesis / Q000235:genetics*; D008297:Male; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D015221:Potassium Channels; D003294:Seizures, Febrile / Q000235:genetics*
C578710:HCN2 protein, human; D064428:Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels; D007473:Ion Channels; D015221:Potassium Channels