早发性家族性阿尔茨海默病中早老素1基因的突变研究
[Study of mutations of presenilin 1 gene in early-onset familial Alzheimers disease].
作者信息
Cao Lili, Qiu Xiaoxue, Zheng Jinfan, Lin Pengfei, Wang Shuzhen
机构信息
Neurology Department of Qilu Hospital of Shandong University, Jinan, Shandong 250012, P.R. China. Email:
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Jun;31(3):298-301. doi: 10.3760/cma.j.issn.1003-9406.2014.03.009.
OBJECTIVE
Mutations of presenilin 1 (PSEN1) gene are the most frequent cause for familial Alzheimers disease (AD). This study was set to explore potential mutation of PSEN1 gene in a Chinese family featuring early-onset Alzheimers disease (FAD).
METHODS
DNA was isolated from peripheral blood samples from 17 members of the FAD family as well as 10 patients with sporadic Alzheimers disease and 100 healthy subjects. With polymerase chain reaction (PCR) and Sanger sequencing, exons 113 of the PSEN1 gene were analyzed.
RESULTS
DNA sequencing has revealed a heterozygous point mutation from G to A at position 1133 (Gly378Glu) of exon 11 of PSEN1 gene in 6 members from the family, among whom 5 were patients with dementia, whilst the remaining 1 was clinically normal but under onset age. The same mutation was not found in all other patients and the normal controls.
CONCLUSION
A novel missense mutation of the PSEN1 gene, Gly378Glu, probably underlies the autosomal dominant early-onset FAD in this Chinese family.
目的
早老素1（PSEN1）基因突变是家族性阿尔茨海默病（AD）最常见的病因。本研究旨在探究一个早发性阿尔茨海默病（FAD）中国家系中PSEN1基因的潜在突变。
方法
从该FAD家系的17名成员以及10例散发性阿尔茨海默病患者和100名健康受试者的外周血样本中提取DNA。采用聚合酶链反应（PCR）和桑格测序法对PSEN1基因的11外显子进行分析。
结果
DNA测序显示，该家系6名成员的PSEN1基因第11外显子1133位（Gly378Glu）存在G到A的杂合点突变，其中5例为痴呆患者，其余1例临床正常但未到发病年龄。在所有其他患者和正常对照中未发现相同突变。
结论
PSEN1基因的一种新的错义突变Gly378Glu可能是这个中国家系常染色体显性早发性FAD的病因。
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