宁夏农村地区癫痫患者中CAMSAP1L1 SNP及其分布特点

发布时间：2018-06-17 07:50

本文选题：癫痫 + CAMSAP1L1SNP　；参考：《宁夏医科大学》2014年硕士论文

【摘要】：目的分析宁夏农村地区癫痫患者的临床特点，探讨宁夏农村地区CAMSAP1L1基因的单核苷酸多态性在癫痫患者中分布情况。方法采取单纯随机抽样的方法从宁夏农村癫痫示范管理项目的癫痫患者中抽取636例作为研究对象，回顾性分析病例的一般资料（年龄、性别、病史、发作表现、抗癫痫药物史等），应用PCR-RFLP技术测定研究对象CAMSAP1L1基因rs2292096和rs6660197位点情况。结果样本中的男性患病率显著高于女性，，男：女=1.4:1；平均年龄36.0±11.7岁不同性别、年龄癫痫患者的发作类型没有差异；不同发作类型的癫痫患者发作情况不完全相同；CAMSAP1L1基因rs6660197位点的C、CT、T基因型分别占64.4%、32.1%和3.5%；rs2292096位点的A、AG、G基因型分别占63.3%、31.6%和5.1%；C型和A型等位基因比例较高，而T型和G型等位基因比例相对较低。性别、年龄、家族史与CAMSAP1L1基因rs6660197和rs2292096位点基因分布无关；rs2292096位点基因分布与癫痫类型有一定关系。结论癫痫发病机制复杂，CAMSAP1L1基因rs6660197和rs2292096位点基因分布可能影响癫痫的发生发展。性别、年龄、家族史与CAMSAP1L1基因rs6660197和rs2292096位点基因分布无关；rs2292096位点基因分布与癫痫发作类型有一定关系。
[Abstract]:Objective to investigate the distribution of single nucleotide polymorphism of CAMSAP1L1 gene in rural areas of Ningxia. Methods A total of 636 epileptic patients in Ningxia rural epilepsy demonstration management project were selected by random sampling. The general data (age, sex, medical history, seizure manifestation) of the patients were analyzed retrospectively. The rs2292096 and rs6660197 loci of CAMSAP1L1 gene were determined by PCR-RFLP. Results the prevalence rate of male was significantly higher than that of female (male: female 1.4: 1; mean age 36. 0 卤11. 7 years old, different sex, age epileptic patients had no difference in type of seizure, different seizure types of epileptic patients were not exactly the same, the average age was 36. 0 卤11. 7 years old, the type of seizure was not different. The alleles of CAMSAP1L1 rs6660197 locus accounted for 32.1% and 3.5%, respectively, and those of rs2292096 locus were 63.33.6% and 5.1g%, respectively, while the ratios of T and G alleles were relatively low. Sex, age, family history were not related to the distribution of rs6660197 and rs2292096 loci of CAMSAP1L1 gene. Conclusion the distribution of rs6660197 and rs2292096 loci of CAMSAP1 L1 gene may affect the development of epilepsy. Sex, age, family history were not related to the distribution of rs6660197 and rs2292096 loci of CAMSAP1L1 gene.
【学位授予单位】：宁夏医科大学
【学位级别】：硕士
【学位授予年份】：2014
【分类号】：R742.1

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