目的:探讨分析主穹窿蛋白(MVP)基因三个SNP位点rs4788187、rs3815824、rs3815823 多态性与高原地区儿童癫痫的相关性.方法:选取 2017 年 1 月～2020 年 1 月青海大学附属医院收治的 80 例癫痫患儿为研究对象,根据耐药性不同分为耐药组与非耐药组各40 例,利用PCR-RELP方法检测rs4788187、rs3815824、rs3815823 三个SNP位点的多态性分布,并进行统计分析.结果:两组年龄、性别、民族以及癫痫发作类型比较差异无统计学意义(P>0.05).癫痫患儿 rs4788187、rs3815824 的等位基因 C 频率明显低于 T,而 rs3815823 的等位基因 T 频率明显低于 C;两组患儿 SNP 位点 rs4788187、rs3815824、rs3815823 的基因型频率和等位基因频率比较差异均无统计学意义(P>0.05).结论:MVP 基因的 SNP 位点(rs4788187、rs3815824、rs3815823)与癫痫耐药性不相关.
Polymorphism analysis of MVP gene in children with epilepsy in plateau area
Objective To analyze the relationship between polymorphism of three SNP loci of MVP gene rs4788187,rs3815824 and rs3815823 and childhood epilepsy in plateau area.Method 80 children with epilepsy admitted to our Hospital were collected as research object from January 2017 to January 2020,and they were divided into drug-resistant group and non-drug-resistant group ac-cording to their drug resistance,with 40 cases in each group.The polymorphism distribution of three SNP loci,namely,rs4788187,rs3815824 and rs3815823,was detected by PCR-RELP method and statistically analyzed.Results There was no significant difference in age,sex,nationality and seizure type between drug-resistant group and non-drug-resistant group(P>0.05).The allele frequency of rs4788187,rs3815824 in children with epilepsy was significantly lower than that of T,while that of rs3815823 was significantly lower than that of C;There was no significant difference in genotype frequency and allele frequency of SNP loci rs4788187,rs3815824 and rs3815823 between drug-resistant group and non-drug-resistant group(P>0.05).Conclusion SNP loci of MVP gene(rs4788187,rs3815824,rs3815823)are not related to epilepsy drug resistance.
NETL
NSTL
万方数据
