阿尔茨海默病PS-1基因突变的研究

The Test of Mutations of PS-1 Gene in Alzheimer's Disease

采用聚合酶链反应及基因测序技术探讨阿尔茨海默病(A lzhe im er病,AD)早老素-1(P resen ilin-1,PS-1)基因第3、4、5、8外显子的突变特点,对13例散发性A lzhe im er病(sporad ic A lzhe im er’s d isease,SAD)患者、12例血管性痴呆(vascu lar dem end ia,VD)患者及31名正常老年人的PS-1基因第3、4、5、8外显子片段进行扩增与序列分析.编号为SAD 5的患者PS-1基因第3外显子扩增片段上存在1个缺失突变位点,编号为SAD 3的患者PS-1基因第8外显子扩增片段的近3’端处发现2个插入突变位点.12例VD患者与31名正常老年人的PS-1基因第3、4、5、8外显子均未发现突变.实验结果表明,SAD患者PS-1基因中存在第3、第8外显子的突变.

To detect the mutations of PS-1 of thirteen Chinese patients with sporadic Alzheimer disease （SAD） and others. Genomic DNAs were isolated from the peripheral blood of the thirteen patients with SAD and twelve patients with VD and thiety one the healthy elderly. Using polymerase chain reaction （PCR） and sequencing technique, the exon3, 4, 5, 8 of their PS-1 were analyzed. There were not mutations on exon4 and exon5 of all samples. But one absence mutations of exon3 and two insert mutations of exon8 was found. It is suggestion that there are mutations on exon3 and exon8 in PS-1 of SAD.