本文選題：神經(jīng)管畸形　切入點(diǎn)：危險(xiǎn)因素　出處：《山西醫(yī)科大學(xué)》2005年碩士論文　論文類(lèi)型：學(xué)位論文

【摘要】：目的:尋找山西省神經(jīng)管畸形(neural tube defects, NTDs)高發(fā)的可疑危險(xiǎn)因素(包括遺傳、環(huán)境及營(yíng)養(yǎng)等方面),探討母親漿細(xì)胞膜糖蛋白-1(plasma cell membrane glycoprotein-1, PC-1)基因和N5-N10 亞甲基四氫葉酸還原酶(5,10-methylenetetrahydrofolate reductase, MTHFR)基因與子代發(fā)生NTDs風(fēng)險(xiǎn)性之間的關(guān)系,并研究危險(xiǎn)因素間是否存在交互作用,從而揭示多因素在NTDs 發(fā)生中的作用。 方法:選取2003 年3 月至2004 年10 月間在山西省6 個(gè)高發(fā)地區(qū)的25所醫(yī)院生育NTDs患兒或B超診斷為NTDs患兒而引產(chǎn)的母親99例為病例組,選取同期生育正常兒的母親或與病例組孕周相近的孕婦99 名為對(duì)照組,進(jìn)行1:1 配比的病例對(duì)照研究。對(duì)兩組對(duì)象進(jìn)行問(wèn)卷調(diào)查,同時(shí),對(duì)每一個(gè)調(diào)查對(duì)象抽取肘靜脈血2 ml,提取DNA,采用聚合酶鏈反應(yīng)—限制性片段長(zhǎng)度多態(tài)性(polymerase chain reaction-restriction fragment length polymorphism analysis, PCR—RFLP)方法檢測(cè)調(diào)查對(duì)象PC-1 基因121 位點(diǎn)和MTHFR 基因677 位點(diǎn)多態(tài)性。采用SPSS10.0 軟件進(jìn)行統(tǒng)計(jì)學(xué)分析,比較病例組和對(duì)照組基因頻率分布,并結(jié)合環(huán)境因素進(jìn)行單因素、多因素及交互作用分析。 結(jié)果:(1)PC-1 基因121 位點(diǎn)的基因頻率在病例組和對(duì)照組的比較:PC-1 基因121 位點(diǎn)在此次研究中僅發(fā)現(xiàn)兩種基因型,即野生型KK 和雜合突變型KQ,未發(fā)現(xiàn)純合突變型QQ。其基因型頻率(KK、KQ)在病例組的分布為90.9%和9.1%,在對(duì)照組的分布為93.9%和6.1%,兩組間差異無(wú)統(tǒng)計(jì)學(xué)意義(χ~2=0.65,P0.10);其等位基因頻率(K、Q)在病例組的分布為95.5%和4.5%,在對(duì)照組的分布為97.0%和3.0%,兩組間差異無(wú)統(tǒng)計(jì)學(xué)意義(χ~2=0.62,P0.10)。 (2)MTHFR 基因677 位點(diǎn)的基因頻率在病例組和對(duì)照組的比較:MTHFR基因677 位點(diǎn)有3 種基因型,即野生型CC、雜合突變型CT 和純合突變型
[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.
【學(xué)位授予單位】：山西醫(yī)科大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2005
【分類(lèi)號(hào)】：R363

【引證文獻(xiàn)】

相關(guān)碩士學(xué)位論文 前1條

1 王柯;河南漢族人群MTHFR基因多態(tài)性與食管癌遺傳易感性的關(guān)聯(lián)研究[D];鄭州大學(xué);2011年

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本文編號(hào)：1640585