Study On The Correlation Between SNP Of SCN1A And Epilepsia Genuina Of Four Peculiar Minorities In Yunnan Province

Objective:To investigate the correlation between single nucleotide polymorphism (SNP) of SCN1A and epilepsia genuina of four peculiar minority nationalities including Dai, Lahu, Wa, and Lisu in Yunnan Province in order to discover any genetic mutation and to explicit the pathogenesis of epilepsia genuina in molecular level, then to provide the theoretical foundation for prevention and cure of epilepsy.Methods:All subjects investigated diagnosed belonged to the four peculiar minority nationalities in Yunnan Province, including Wa, Lahu, Dai and Lisu peoples. Patients with epilepsia genuina were selected as the experimental group; peoples without epilepsia genuina were chosen to be healthy controls group.13Wa patients,16Lahu patients,21Dai patients and4Lisu patients,were set as experimental group, and15Wa peoples,17Lahu peoples,18Dai peoples and4Lisu peoples were selected as health control group. Time of flight mass spectrography (TOFMS) was used to divide SCN1A—encoding alpha1subunit of Voltage gated sodium channel, then to analysis the difference of genotypes and alleles on each site of SNP by means of chi-square test so as to find out the SCNIA genes associating with the four peculiar minority nationalities in Yunnan Province.Results:SNP sites of SCN1A, including rs121917930, rs121917953, rs121917954, rs121918622, rs121918623, rs121918624, rs121918625, rs121918626, rs121918627, rs121918629, rs121918631, were found of no obvious polymorphism distribution among the four peculiar minority nationalities in Yunnan Province, and this was not statistically significant, while rs3812718was proved of having obvious polymorphism.Three genotypes (TT, CT and CC) and two alleles (T, C) were detected in this site. However, the comparisons of the polymorphism distribution of genotypes and alleles on rs3812718between the experimental groups and healthy control groups, interior-groups and inter-groups were found of no statistically significance, which demonstrated that there may be no association between rs3812718and epilepsia genuina among the four peculiar minority nationalities in Yunnan Province. All sites of SCN1A showed no ethnic differences in these four minority groups. The result may be influenced by small sample size.Conclution:1. Among the four peculiar minorities (Dai, Lahu, Wa, and Lisu), patients with epilepsia genuina were mainly children and teenagers under20years old, which were similar to other results at home and abroad.2. No obvious polymorphism was showed at11SNP sites (including rs121917930, rs121917953, rs121917954, rs121918622, rs121918623, rs121918624, rs121918625, rs121918626, rs121918627, rs121918629, rs121918631) of SCN1A which encodes alpha1subunit of Voltage gated sodium channel in the four peculiar minorities (Dai, Lahu, Wa, and Lisu), collected by the study.3. rs3812718—one SNP site of SCN1A which encodes alpha1subunit of Voltage gated sodium channe1—was proved of having obvious polymorphism in the four peculiar minorities (Dai, Lahu, Wa, and Lisu), collected by the study..4. There was no association between epilepsia genuina and12SNP sites (including rs121917930, rs121917953, rs121917954, rs121918622, rs121918623, rs121918624, rs121918625, rs121918626, rs121918627, rs121918629, rs121918631, rs3812718) of SCN1A which encodes alpha1subunit of Voltage gated sodium channel in the four peculiar minorities (Dai, Lahu, Wa, and Lisu), collected by the study.5. No national difference at12SNP sites(including rs121917930, rs121917953, rs121917954, rs121918622, rs121918623, rs121918624, rs121918625, rs121918626, rs121918627, rs121918629, rs121918631, rs3812718)of SCN1A which encodes alpha1subunit of Voltage gated sodium channel in the four peculiar minorities (Dai, Lahu, Wa, and Lisu), collected by the study..