Analysis Of Familial Febrile Seizures SCN1A Single Nucleotide Polymorphism

Background and Objective: Familial febrile seizures is a a special kind of epilepsy syndrome in pediatrics,The incidence of European and American countries is 2%-5%,Asia is even higher.Pathogenesis of familial FS is not yet clear,studies confirm that genetic factors are involved in its pathogenesis,since 1996,Since 1996,a total of 12 familial FS susceptibility loci have been reported,suggestted that familial FS had a definite genetic heterogeneity.SCN1A gene is one of the most important genes associated with epilepsy syndrome,So far,about 900 kinds of gene mutations associated with epilepsy syndrome have been discovered by searching the SCN1 A gene mutation database.Reports on SCN1 A polymorphism and familial FS is not rare,the most reported is the rs3812718 and rs2298771 polymorphism,the results are inconsistent.Previous studies of Northern Anhui eight family in Han population of FS pedigree members SCN1 A gene sequencing,were found 32 SNP,including with FS reported the most in this IVS5N+5G>A polymorphism..This study intends to further expand the sample size of familial FS,in China for the first time to carry out correlation of Northern Anhui Han population family FS and SCN1 A gene SNP,which is important to further improve the genetics of familial FS pathogenesis,and It is expected to provide new clues for the prevention and treatment of familial FS.Methods: Collected between January 2013 to December 2015 at the First Affiliated Hospital of Bengbu Medical College pediatric medical treatment of children have a family history of FS for the study,diagnosis of children with FS reference International League Against Epilepsy(ILAE)definition of the FS,exclude neurological or developmental abnormalities and mental retardation in children.By asking FS probands family history,screening the FS family and drawing the pedigree map.The parents of the children who participated in this study signed the consent form.Collecting the venous blood of all the members of FS prevalence in the family,and extracting whole blood genomic DNA,using i MLDR multiplex SNP typing technique to detect the target SNP.During the same period,100 healthy children were enrolled as normal control group.To analyze the differences in the distribution of SNP genotype and allele frequency of SCN1 A gene between the case group and the control group.Results: A total of 18 families with familial FS,33 cases of patients,19 patients were male,14 patients was female,phenotypes are typical of the simple type FS,seizure type generalized tonic-clonic seizures.Based on 33 cases of patients with FS SCN1 A target gene SNP genotyping,we found rs3812718 polymorphism loci mutant allele frequency in case group was 56.06%,the control group was 50.50%,rs7580482,rs6432860,rs2298771 polymorphic sites mutant allele frequency of 95.45%,the control group was 88.00%.Mutant allele frequency was no significant difference in the case group and the control group.Genotype and allele frequency SNPs in the case and control groups in the chi-square test results are shown P values were greater than 0.05,not statistically significant.The use of haplotype analysis software PHASE2.1 Construction and Analysis of target SNPs haplotypes were obtained two haplotypes,respectively haplotype 1(ACG)and haplotype 2(GTA),chi-square test results shows P value 0.0821> 0.05 was not statistically significant.Conclusion: Based on the 18 familial pedigrees FS 33 patients and 100 normal controls SCN1 A gene SNPs analysis,we draw the following conclusions:(1)SCN1A gene SNP(rs3812718,rs7580482,rs6432860,rs2298771)is not risk factors for familial FS in Han Chinese population of North Anhui Province.(2)SCN1A gene SNPs(rs7580482,rs6432860,rs2298771)haplotype ACG ? GTA is not associated with familial FS in Chinese Han population of North Anhui Province.