Detection of SCN1A Gene Polymorphisms in Epilepsy Children

Muthanna Journal of Pure Sciences – MJPS

VOL. 4 – NO. 2 / 2017

Laith Abdul-Hassan M. Jawad Al-Obaidi, Maha Sultan Ali Al-Rubaie
Biology department, Science college, Al- Muthanna University, Al-Muthanna, Iraq


Febrile seizure (FS) is a common convulsions occur in children from 5 months to 6 years of age whose suffering from high temperature (>38.4°C). They represent the majority of childhood seizures and have a genetic predisposition. It is not known, however, whether polymorphisms in genes which involved in familial epilepsies also contribute to the pathogenesis of Febrile seizures. Single nucleotide polymorphisms (SNPs) was used to investigate the distribution of genotypes of SCN1A p. Thr 1067 Ala or c.3184A/G (rs2298771)in patients with FSs. A total of 50 children with Febrile seizures and 50 normal control subjects are included in this study. PCR-RFLP is use to identify the A/G polymorphisms of the SCN1A gene on chromosome 2q24. Genotypes and allelic frequencies for the SCN1Ain both groups were compared. The study determines some biochemical tests(glucose, creatinine, potassium) were performed by Reflotron, (sodium, phosphorus, chloride and calcium) by a Spectrophotometer. Results show that the genotype proportions and allele frequencies for SCN1A c.3184 A/G in both groups are not significantly. Proportions of A homozygote, A/G heterozygote, and G homozygote for SCN1A c.3184 A/G were as follows: in patients with FSs, 20%, 50%, and 30%, respectively; and in control, 24%, 62%, and 14%, respectively, The allele A and G frequencies for SCN1A c.3184 A/G in patients with FSs was 45% and 55% respectively; and in control 55% and 45% respectively. The frequency of AG genotype of SCN1A c.3184 A/G polymorphism was non- significantin patients with FSs compared to control group The study showedincrease in glucose and phosphorus levels, decrease in sodium and chloride levels, normal value in serum K, Ca and creatinine levels in children with febrile seizure compare with control. The results do not suggest that SCN1A p. Thr 1067 Ala or c.3184A/G (rs2298771) SNPs are susceptibility factors for febrile seizures in Al-Samawah city and the fever plays an important role in causing disturbances in electrolyte balance.
Keywords: Febrile seizures ,SCN1A , Single nucleotide polymorphisms(SNPs),PCR-RFLP




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