人内皮型一氧化氮合酶基因G894T多态性与轻度认知功能障碍的关联研究

发布时间：2018-05-04 17:27

本文选题：轻度认知功能障碍 + 一氧化氮合酶基因　；参考：《南昌大学》2013年硕士论文

【摘要】：目的：对人内皮型一氧化氮合酶基因第7外显子894位等位基因多态性进行研究，探讨该基因在江西汉族轻度认知功能障碍患者及正常汉族人群中的分布情况，及其对轻度认知功能障碍患者认知功能的影响。方法：实验组选择2012年1-8月期间，就诊于南昌大学第一附属医院江西地区汉族轻度认知功能障碍患者116例，对照组选择同时期南昌大学第一附属医院与实验组性别、年龄、种族匹配的116例健康体检者。使用成套神经心理检测量表（蒙特利尔认知评估量表、日常生活能力量表、Hachinski缺血指数量表与全面衰退量表）作为辅助诊断工具对入组对象进行检测；采用DNA快速提取试剂盒提取DNA，并通过PCR、限制性内切酶技术，检测江西省汉族人群内皮型一氧化氮合酶基因第7外显子894位的等位基因与基因型。所得数据使用SPSS18.0软件进行统计分析，计算出各等位基因的基因型频率和基因频率；检测对照组Hardy-Weinberg吻合度；采用χ~2检验检测两组间等位基因型及基因频率差异（检验水准α=0.05，，双侧检验）；用两独立样本t检验检测试验组中各基因型MoCA总分及各因子分差异（检验水准α=0.05，双侧检验）。结果： 1.对照组内皮型一氧化氮合酶基因第7外显子894位基因型符合H-W平衡定律（P㧐0.05）； 2.轻度认知功能障碍患者组和正常对照组内皮型一氧化氮合酶基因第7外显子894位T等位基因的检出率分别为32.8%和22.8%，两者的差异有统计学意义（χ~2=7.114，P＜0.05）； 3.轻度认知功能障碍患者，携带T等位基因者MoCA总分与未携带T等位基因者无明显差异（P㧐0.05）；携带T等位基因者视空间/执行功能与抽象思维因子分低于未携带T等位基因者，两者的差异有统计学意义（P㩳0.05）。结论：江西地区汉族人群一氧化氮合酶基因G894T多态性与轻度认知功能障碍存在关联；G894T多态性可能影响轻度认知功能障碍患者认知功能中视空间/执行功能与抽象思维的正常实现。
[Abstract]:Objective: The polymorphism of the 894 allele in exon 7 of human endothelial nitric oxide synthase gene was studied, and the distribution of the gene in the patients with mild cognitive impairment in Jiangxi Han nationality and normal Han population was studied. And its effect on cognitive function in patients with mild cognitive impairment. Methods: From January to August 2012, 116 patients with mild cognitive impairment of Han nationality in Jiangxi first affiliated Hospital of Nanchang University were selected as experimental group, and sex and age of the first affiliated hospital of Nanchang University and experimental group were selected as control group. Race matched 116 healthy persons. A complete set of neuropsychological scale (Montreal Cognitive Assessment scale, activity of Daily living scale, Hachinski Ischemia Index scale and Total decline scale) was used as an auxiliary diagnostic tool. DNA rapid extraction kit was used to extract DNA. The alleles and genotypes at exon 7 of endothelial nitric oxide synthase gene in Jiangxi Han population were detected by PCR and restriction endonuclease technique. The data were statistically analyzed by SPSS18.0 software to calculate the genotype frequency and gene frequency of each allele, and the Hardy-Weinberg coincidence degree of the control group was detected. The allelic genotype and gene frequency difference between the two groups were detected by 蠂 ~ 2 test (test level 伪 0.05, bilateral test), and the total MoCA score and factor scores of each genotype in the test group were detected by two independent sample t-test (test level 伪 -0.05, bilateral test). Results: 1. The genotype at exon 894 of endothelial nitric oxide synthase gene in the control group was in accordance with H-W equilibrium law. 2. The detection rate of T allele at exon 7 of endothelial nitric oxide synthase gene was 32.8% in patients with mild cognitive impairment and 22.8% in normal controls. The difference between them was statistically significant (蠂 ~ 2 = 7.114, P < 0.05). 3. In patients with mild cognitive impairment, there was no significant difference in total MoCA score between patients with T allele and those without T allele, and the scores of visual space / executive function and abstract thinking factor in patients with T allele were lower than those without T allele. The difference between the two was statistically significant (P < 0.05). Conclusion: The G894T polymorphism of nitric oxide synthase gene was associated with mild cognitive impairment in Jiangxi Han population, which may affect the normal realization of visual space / executive function and abstract thinking in patients with mild cognitive dysfunction.
【学位授予单位】：南昌大学
【学位级别】：硕士
【学位授予年份】：2013
【分类号】：R749.1

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