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Study on Homocysteine Metabolism Related Enzymes Gene Mutations in Patients with Alzheimer Disease
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- Author:
- No author available
- Journal Title:
- JOURNAL OF MODERN CLINICAL MEDICAL BIOENGINEERING
- Issue:
- 4
- DOI:
- 10.3760/cma.j.issn.1674-1927.2003.04.003
- Key Word:
- Alzheimer病;胱硫醚β合成酶;甲硫氨酸合成酶;亚甲基四氢 叶酸还原酶;基因突变
Abstract： 目的探讨胱硫醚β合成酶(CBS)基因844ins68、甲硫氨酸合成酶(M S)基因A2756G、亚甲基四氢叶酸还原酶(MTHFR)基因C677T三种同型半胱氨酸代谢相关酶基因突变在阿尔茨海默病(AD)发病中的意义.方法 PCR扩增AD 66例及143例对照者的CBS、MS、MTHFR基因突变点,直接或经限制性内切酶消化后行凝胶电泳确定其基因型.结果 AD病人MTHFR基因中,基因型C/T占56.06%,明显高于对照组(p<0.01),C/C明显低于对照组(p <0.01),T/T与对照组无明显差异(p>0.05). AD病人中MTHFR基因等位基因C的频率相对危险率(RR),T的频率与对照组的差异有显著性(p<0 .05).CBS 844ins68、MS A2756G各种基因型频率在AD组与对照组之间无差异 .结论 AD病人中MTHFR*T频率明显高于正常人;而MTHF R *C频率则明显低于正常人,而CBS 844ins68、MS A2756G突变可能不足以构成阿尔茨海默病的独立遗传性危险因子.
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