Testing for mutations in exon 17 of the beta-amyloid precursor protein gene in Finnish Alzheimer patients and normal subjects.

O Heinonen, K Kurvinen, H Soininen, H Koponen, S Syrjänen, P J Riekkinen
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Abstract

Mutations in the beta-amyloid precursor protein gene on chromosome 21 were shown to cause a small proportion of Alzheimer's disease. We studied the occurrence of the point mutations in exon 17 of the beta-amyloid precursor protein gene in a sample of Finnish familial Alzheimer patients and nondemented controls using polymerase chain reaction and a single strand conformation polymorphism technique. In addition, mutations in familial Alzheimer's disease patients were studied by sequencing the amplified products. Interestingly, two probable polymerase chain reaction errors were detected in codons 717 and 693 of the exon 17. However, no mutations in the exon 17 were confirmed adding the study to the body of literature that mutations in the exon 17 are a rare cause of familial Alzheimer's disease.

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芬兰阿尔茨海默病患者和正常人β -淀粉样蛋白前体基因外显子17突变的检测。
21号染色体上β -淀粉样蛋白前体基因的突变被证明是导致一小部分阿尔茨海默病的原因。我们使用聚合酶链反应和单链构象多态性技术研究了芬兰家族性阿尔茨海默病患者和非痴呆对照组中β -淀粉样蛋白前体蛋白基因外显子17点突变的发生。此外,通过对扩增产物进行测序,研究了家族性阿尔茨海默病患者的突变。有趣的是,在第17外显子的717和693密码子中检测到两个可能的聚合酶链反应错误。然而,17号外显子没有突变被证实,这使得该研究进一步证实了17号外显子突变是家族性阿尔茨海默病的罕见原因。
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