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A Study Between The Association Of MDR1 Gene Polymorphism With Refractory Epilepsy In Children

Posted on:2019-06-23Degree:MasterType:Thesis
Country:ChinaCandidate:X J YinFull Text:PDF
GTID:2394330545489498Subject:Pediatrics
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BackgroundAccording to the effective statistics,the prevalence of epileptic patients in China is 7 per thousand,and most of them are onset in childhood.The majority of patients with epilepsy after drug treatment episodes can be controlled,but there is still a part of antiepileptic drug treatment in patients with poor response against epilepsy,it is difficult to control,become intractable epilepsy(intractable epilepsy),also called intractable epilepsy,refractory epilepsy and epilepsy patients accounted for 20%-30% of the total.The etiology of epilepsy is complex,diverse,hereditary,metabolic,structural,immunological,infectious,and unexplained.There are also multiple reasons of repeated overlapping,resulting in difficulties in clinical diagnosis and treatment.Why do some children with epilepsy with one or two kinds of drugs can achieve complete control of seizures in children with epilepsy,while others with two or more than two kinds of drugs are still difficult to control,has been a difficult problem for many scholars,then the resistance mechanism hypothesis,especially the study of MDR1 gene has been is a hotspot of research on mechanism of resistance.ObjectiveThis study through the selection of the MRD1 gene 5 tag single nucleotide polymorphisms(tagSNP),rs2235048,rs10808072,rs1922242 loci rs868755,rs1202184 loci,to further explore the relationship between gene polymorphism and refractory epilepsy and the relationship between gene polymorphism and susceptibility to epilepsy,to make a reasonable explanation for the cause of intractable epilepsy,and clinical guidance.Methods From January 2016 to March 2017 of Henan Province People's Hospital pediatric neurology outpatients with epilepsy and the healthy children who examined to the hospital of a total of 300 cases that were Han children,which in children with refractory epilepsy(resistance group drug resistance,DR),epilepsy patients(drug sensitive group susceptibility,DS)and healthy group(control group,normal controls,NC),with 100 cases in each group.Samples were collected,DNA was extracted,primers were designed and synthesized.PCR was used to amplify the target fragments and run electrophoresis.The amplified products were sent to Shanghai raw materials to be sequenced.The genotype distribution and allele frequencies of the three groups were compared and analyzed by SPSS19.0 software.P=0.05 was used as the comparison standard,and the result P<0.05 was statistically significant.ResultsThrough the study of 5 tagSNP loci rs1922242,rs2235048,rs10808072,rs868755,rs1202184 of MDR1 gene,in the resistant group and sensitive group compared the distribution of rs1922242 and rs10808072 genotype and allele frequencies of rs2235048,rs868755,and rs1202184 allele frequency differences were not statistically significant,but the rs868755(P=0.022)rs1202184(P=0.008)genotype distribution difference was statistically significant,and the rs868755 gene in refractory epilepsy mainly CC genotype,and the CA genotype can make the epilepsy more easily controlled,rs1202184 genotype of refractory epilepsy with AA genotype.MDR1 gene this study selected 5 loci rs1922242,rs2235048,SNP label,rs10808072 rs868755,rs1202184 has not been studied in the field of drug-resistant epilepsy through this study,5 tagSNP loci of rs1922242 gene of MDR1(TT,AT,AA genotype,A,T allele,rs2235048(TT,AT,AAgenotype,T,A allele),rs10808072(AA,AG,GG genotype,A,G allele,rs868755(CC,AC,AAgenotype,C,A allele),rs1202184(AA,AG,GG genotype,A,G allele)in the patient group(DR group+DS group)5 tagSNP genotype distribution and allele frequency differences were found no statistically significant difference compared with NC group after(P >0.05).Conclusion 1.The difference in the distribution of rs868755 and rs1202184 genotypes of MDR1 gene may be associated with intractable epilepsy.And the rs868755 refractory genotypes are mainly CC type,and the CA genotype can make the epilepsy more easily controlled and the rs1202184 intractable epilepsy genotypes are mainly AA type.2.The polymorphism of MDR1 gene may not be related to the susceptibility of epilepsy.
Keywords/Search Tags:MDR1 gene, SNP locus, intractable epilepsy, genotype, allele
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