Alzheimer病患者淀粉样前体蛋白基因16、17外显子突变的研究

A study of mutation of amyloid precursor protein gene exon 16 and exon 17 in Alzheimer disease

目的 探讨淀粉样β-蛋白(β/A_4)基因突变与Alzheimer病(AD)的关系。方法 运用限制性片段长度多态性(RFLP)和单链构象多态性(SSCP),检测分析20例散发性AD患者和8例正常老年人的淀粉样前体蛋白(APP)基因16、17外显子的多态性。结果 AD患者和正常对照的β/A_4基因均未发现C→T突变及其它异常SSCP泳动变位。结论 APP基因β/A_4编码区突变不是一突变“热点”,在AD不具有普遍意义。

Objective To detect the β/A4 gene mutation in Alzheimer disease (AD) for determining the relationship between the gene mutation and AD. Methods 20 sporadic AD subjects and 8 age-matched normal controls were collected and polymorphisms of amyloid precursor protein (APP) gene exon 16 and exon 17 were detected using the analysis by poly-merase chin reaction (PCR), retriction fagment length polymorphisms (RELP) and single -strand conformation polymor-phisms(SSCP) in PCR products. Results Neither the Bel 1 restriction site (C→T transition causing Val He substitution) nor other mutation and dissimilar SSCP mobility shift was found. Conclusions This group of subjects was not caused by APP gene mutation. APP gene mutations in β/A4 region codes might not be general phenomenon for AD.