PC-1基因、MTHFR基因多态性与神经管畸形关系的研究

发布时间：2018-03-20 19:59

本文选题：神经管畸形　切入点：危险因素　出处：《山西医科大学》2005年硕士论文　论文类型：学位论文

【摘要】：目的:寻找山西省神经管畸形(neural tube defects, NTDs)高发的可疑危险因素(包括遗传、环境及营养等方面),探讨母亲浆细胞膜糖蛋白-1(plasma cell membrane glycoprotein-1, PC-1)基因和N5-N10 亚甲基四氢叶酸还原酶(5,10-methylenetetrahydrofolate reductase, MTHFR)基因与子代发生NTDs风险性之间的关系,并研究危险因素间是否存在交互作用,从而揭示多因素在NTDs 发生中的作用。方法:选取2003 年3 月至2004 年10 月间在山西省6 个高发地区的25所医院生育NTDs患儿或B超诊断为NTDs患儿而引产的母亲99例为病例组,选取同期生育正常儿的母亲或与病例组孕周相近的孕妇99 名为对照组,进行1:1 配比的病例对照研究。对两组对象进行问卷调查,同时,对每一个调查对象抽取肘静脉血2 ml,提取DNA,采用聚合酶链反应—限制性片段长度多态性(polymerase chain reaction-restriction fragment length polymorphism analysis, PCR—RFLP)方法检测调查对象PC-1 基因121 位点和MTHFR 基因677 位点多态性。采用SPSS10.0 软件进行统计学分析,比较病例组和对照组基因频率分布,并结合环境因素进行单因素、多因素及交互作用分析。结果:(1)PC-1 基因121 位点的基因频率在病例组和对照组的比较:PC-1 基因121 位点在此次研究中仅发现两种基因型,即野生型KK 和杂合突变型KQ,未发现纯合突变型QQ。其基因型频率(KK、KQ)在病例组的分布为90.9%和9.1%,在对照组的分布为93.9%和6.1%,两组间差异无统计学意义(χ~2=0.65,P0.10);其等位基因频率(K、Q)在病例组的分布为95.5%和4.5%,在对照组的分布为97.0%和3.0%,两组间差异无统计学意义(χ~2=0.62,P0.10)。 (2)MTHFR 基因677 位点的基因频率在病例组和对照组的比较:MTHFR基因677 位点有3 种基因型,即野生型CC、杂合突变型CT 和纯合突变型
[Abstract]:Objective: to identify the suspicious risk factors (including heredity) of neural tube defects (NTDs) in Shanxi Province. In this paper, the relationship between maternal plasma plasma membrane glycoprotein 1 (cell membrane glycoprotein-1) gene and N5-N10 methylene tetrahydrofolate reductase (MTHFRase) gene and the risk of NTDs in offspring was studied. Thus, the role of multiple factors in the pathogenesis of NTDs was revealed. Methods: from March 2003 to October 2004, 99 mothers with NTDs or NTDs diagnosed by B-ultrasound in 25 hospitals in 6 high incidence areas of Shanxi Province were selected as the case group. A 1: 1 matched case-control study was conducted in 99 mothers with normal birth at the same time or pregnant women of similar gestational weeks in the case group. Questionnaires were conducted among the two groups, and at the same time, 2 ml of cubital vein blood was extracted from each subject and DNA was extracted. Polymerase chain reaction-restriction fragment length polymorphism analysis (PCR-RFLP) method was used to detect the polymorphism of PC-1 gene 121 and MTHFR gene 677. Using SPSS10.0 software for statistical analysis, The gene frequency distribution was compared between the case group and the control group, and the univariate, multivariate and interactive analysis was carried out in combination with environmental factors. Results the gene frequency of the 121 locus of the PC-1 gene was compared between the case group and the control group. In this study, only two genotypes were found at the 121 locus of the WPC-1 gene. That is, wild type KK and heterozygous mutant KQ, no homozygous mutant QQ.Its genotypic frequencies were 90.9% and 9.1 in the case group and 93.9% and 6.1 in the control group. There was no significant difference between the two groups (蠂 ~ (2 +) 0.65% P _ (0.10); the allele frequency of KKK) was higher than that of the control group (P < 0.05). The distribution was 95.5% and 4.5 in the case group and 97.0% and 3.0 in the control group. There was no significant difference between the two groups (蠂 ~ (2 +) 0.62) (P ~ (0.10)). Comparison of the 677 locus frequency of MTHFR gene between case group and control group; there are three genotypes at the 677 locus of the MTHFR gene: wild type CCS, heterozygous mutation CT and homozygous mutation.
【学位授予单位】：山西医科大学
【学位级别】：硕士
【学位授予年份】：2005
【分类号】：R363

【引证文献】