Correlation Analysis Between5-HTR2A Gene Polymorphism And Idiopathic Epilepsy

Summary: objective:This research mainly focuses on theexpression of SNP loci polymorphisms in difference of5-HTR2A genewith the idiopathic epilepsy correlation, and has carried on the researchand analysis. Methods：Based on idiopathic epilepsy patients as theresearch object, this paper discusses the epileptic patients and the normalsubjects in the crowd which5HTR2A gene promoter sequence-1438loci T/C is mutation. We will choose221cases which diagnosed withidiopathic epilepsy patients were randomly selected as the experimentalgroup and normal control group diagnosed by physical examination.Their gender, age, physical health and the region’s will be matched withthe193cases experimental group. Venous blood was collected by twogroups, and after the DNA extraction, PCR (polymerase chain reaction)-SSCP method is used for amplification, after amplification of the PCRproducts, electrophoresis the gel of agarose and electrophoresis the gelof polyacrylamide. After the analysis of single structure as polymorphism,select different PCR products to sequencing. According to the results ofthis study, owing to this research selected the mutation loci of5HTR2Agene is in5-HT2A gene promoter region-1438T/C site, with asignificant difference between the case group and the control group.The 5-HTR2A gene promoter region1438T/C mutation is likely to beaffected through influencing gene transcription and the occurrence ofepilepsy. Balance test results show that in any case this study group or anormal group,the gene and genotype frequency in the control group issignificantly (P <0.01), the genotype frequencies,and the gene frequencyof5-HTR2A gene promoter sequence of-1438-T/C site polymorphismloci in both the case group and normal control group were not in theHardy Weinberg equilibrium state. From the perspective of thedistribution of genotype, the dominants are in heterozygote. On the onehand maybe the two kinds of homozygous due to individuals againstcertain choices, which leads to two homozygous significantly below theheterozygote, another possible reason is that the extract samples in ourstudy has some relation with heterozygous genotype on its phenotype,and leading to the selected sample have this phenomenon, this remains tobe further research. Results:The results showed that5-HTR2A genepromoter-1438-T/C polymorphism loci have significant correlationwith the incidence of idiopathic epilepsy, the results of5HTR2A gene-1438-T/C associated with epilepsy is supported. The allele and thegenotype frequency with-1438-T/C polymorphism loci of5HTR2Agene have obvious differences in the two groups distribution, andbetween different genotypes of patients, the difference was statisticallysignificant clinical guideline values, this paper indicate that the two loci polymorphism could be just what this research sample mainly genetic riskfactors; And may influence the clinical features of the disease.