本文選題：亞甲基四氫葉酸還原酶　切入點(diǎn)：單核苷酸多態(tài)性　出處：《實(shí)用醫(yī)學(xué)雜志》2014年11期 　論文類(lèi)型：期刊論文

【摘要】：目的:探討中國(guó)南方漢族人群中阿爾茨海默病(AD)的發(fā)生與5,10-亞甲基四氫葉酸還原酶(methylenetetrahydrofolate reductase,MTHFR)基因677位點(diǎn)單核苷酸多態(tài)性(677C→T突變)的關(guān)系。方法 :利用聚合酶鏈?zhǔn)椒磻?yīng)-限制性片段長(zhǎng)度多態(tài)性(PCR-RFLP)技術(shù),檢測(cè)45例AD患者和48例健康老年人的MTHFR基因的單核苷酸多態(tài)性,并加以對(duì)照分析。結(jié)果:AD患者M(jìn)THFR基因677位點(diǎn)的各基因型分布與對(duì)照組間無(wú)顯著差異(P0.05)。AD組和對(duì)照組間C、T基因頻率分布差異也無(wú)統(tǒng)計(jì)學(xué)意義(P0.05),但AD組中,T基因的頻率略高于對(duì)照組。結(jié)論:本研究中MTHFR基因677位點(diǎn)單核苷酸多態(tài)性(677C→T突變)不是AD發(fā)病的致病因素,但可能對(duì)AD有一定影響。
[Abstract]:Objective: to investigate the occurrence of Alzheimer's disease (ADD) and the single nucleotide polymorphism of 5methylenetetramethylenetetrahydrofolate reductase (MTHFR) gene 677 in the Han population in southern China. 鈫扢ethods: polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was used to detect the single nucleotide polymorphisms of MTHFR gene in 45 AD patients and 48 healthy elderly people. Results there was no significant difference between the genotype distribution of MTHFR gene 677 locus and that of the control group. There was no significant difference in the frequency distribution of CfT gene between AD group and control group, but there was no significant difference between AD group and control group, but the frequency of T gene in AD group was not significantly different from that in AD group. Conclusion: in this study, the single nucleotide polymorphism of MTHFR gene 677 was 677C. 鈫扵 mutation is not the pathogenic factor of AD, but it may have some effect on AD.
【作者單位】： 長(zhǎng)沙醫(yī)學(xué)院人體解剖與組織胚胎學(xué)省重點(diǎn)建設(shè)學(xué)科;長(zhǎng)沙醫(yī)學(xué)院附屬岳化醫(yī)院神經(jīng)內(nèi)科;湖南省岳陽(yáng)市中醫(yī)醫(yī)院;長(zhǎng)沙醫(yī)學(xué)院臨床學(xué)院;
【基金】：湖南省教育廳科研項(xiàng)目(編號(hào):11C0131)
【分類(lèi)號(hào)】：R749.16

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