本文選題：癲癇 + CAMSAP1L1SNP　； 參考：《寧夏醫(yī)科大學(xué)》2014年碩士論文

【摘要】：目的分析寧夏農(nóng)村地區(qū)癲癇患者的臨床特點(diǎn)，探討寧夏農(nóng)村地區(qū)CAMSAP1L1基因的單核苷酸多態(tài)性在癲癇患者中分布情況。 方法采取單純隨機(jī)抽樣的方法從寧夏農(nóng)村癲癇示范管理項(xiàng)目的癲癇患者中抽取636例作為研究對(duì)象，回顧性分析病例的一般資料（年齡、性別、病史、發(fā)作表現(xiàn)、抗癲癇藥物史等），應(yīng)用PCR-RFLP技術(shù)測(cè)定研究對(duì)象CAMSAP1L1基因rs2292096和rs6660197位點(diǎn)情況。 結(jié)果樣本中的男性患病率顯著高于女性，，男：女=1.4:1；平均年齡36.0±11.7歲不同性別、年齡癲癇患者的發(fā)作類型沒(méi)有差異；不同發(fā)作類型的癲癇患者發(fā)作情況不完全相同；CAMSAP1L1基因rs6660197位點(diǎn)的C、CT、T基因型分別占64.4%、32.1%和3.5%；rs2292096位點(diǎn)的A、AG、G基因型分別占63.3%、31.6%和5.1%；C型和A型等位基因比例較高，而T型和G型等位基因比例相對(duì)較低。性別、年齡、家族史與CAMSAP1L1基因rs6660197和rs2292096位點(diǎn)基因分布無(wú)關(guān)；rs2292096位點(diǎn)基因分布與癲癇類型有一定關(guān)系。 結(jié)論癲癇發(fā)病機(jī)制復(fù)雜，CAMSAP1L1基因rs6660197和rs2292096位點(diǎn)基因分布可能影響癲癇的發(fā)生發(fā)展。性別、年齡、家族史與CAMSAP1L1基因rs6660197和rs2292096位點(diǎn)基因分布無(wú)關(guān)；rs2292096位點(diǎn)基因分布與癲癇發(fā)作類型有一定關(guān)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 鹵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 鹵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.
【學(xué)位授予單位】：寧夏醫(yī)科大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2014
【分類號(hào)】：R742.1

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