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阿尔茨海默病患者神经细丝mRNA含量及突变的检测 被引量:2

Detection of level and mutation of neurofilament mRNA in Alzheimer′s disease
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摘要 目的 探讨阿尔茨海默病 (AD)患者脑中神经细丝 (NF)蛋白含量增高和过度磷酸化的机制。方法 采用半定量逆转录聚合酶链式反应 (RT PCR)技术检测NF M和NF LmRNA量 ,利用单链构象多态性技术检测该扩增片段是否存在突变。结果  8例AD患者NF MmRNA(0 .30± 0 0 3)及NF LmRNA(0 4 4± 0 16 )水平较对照组 (0 4 2± 0 0 7、0 79± 0 0 9)显著偏低 (P均 <0 .0 1) ,2例AD患者存在NF M突变 ,未检测到NF L的突变。 Objective To study if the increase of levels of neurofilament(NF) M and NF L in brain of Alzheimer′s dieases (AD) is caused by increase of NF M and NF L. Methods Semi quantitative reverse transcription PCR was used to measure the NF M and NF L mRNA levels in the brain gray matter obtained by autopsy from 8 patients with AD and 7 age matched patients with Huntington′s disease (HD) used as controls. The mutation of NF M and NF L was detected by single strand DNA conformation polymorphism technique. Results The levels of NF M mRNA and NF L mRNA were significantly lower in the brains of AD patients (0.3±0.03 * OD NF M /OD GAPDH or OD NF L/OD GAPDH and 0.44±0.16* OD NF M /OD GAPDH or OD NF L /OD GAPDH respectively) than in the brains of HD patients (0.42±0.07 OD NF M /OD GAPDH or OD NF L /OD GAPDH and 0.79±0.09 OD NF M /OD GAPDH or OD NF L /OD GAPDH respectively) ( P <0.005 and P <0.007 respectively). NF M mutation was detected in one AD patient. No NF L mutation was found in the samples examined. Conclusion The increase of neurofilament protein observed in the brains of AD patients is related neither to increased gene transcription nor to mutation of NF mRNA.
出处 《中华医学杂志》 CAS CSCD 北大核心 2002年第8期519-522,共4页 National Medical Journal of China
基金 国家自然基金资助项目 (3 9870 767) 国家杰出青年基金资助项目 (3 992 5 0 12 ) 国家科技部基础研究规划基金(G19990 5 40 0 7)
关键词 阿尔茨海默病 神经细丝蛋白质类 基因突变 AD 单链构象多态性 Alzheimer disease Neurofilament proteins Gene Mutation
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