中国医科大学学报2011，Vol.40Issue(4)：357-359,363,4.DOI:CNKI:21-1227/R.20110426.1533.014
散发性阿尔茨海默病早老素2基因的新突变
Association of Mutations of Presenilin-2 Gene and Sporadic Alzheimer's Disease
白云峰 1田菊 2权文香 2前田潔3
作者信息
- 1. 解放军第302医院中西医结合肝病诊疗与研究中心一科,北京,100039
- 2. 北京大学第六医院生化室,北京,100191
- 3. 日本神户大学医学系研究科精神神经科,日本,神户,6500017
- 折叠
摘要
Abstract
Objective To detect exon sequences of presenilin-2gene ( PSEN2 ),and to explore the association between possible mutations of PSEN2 gene and sporadic Alzheimer's disease (SAD).Methods All subjects were from Japan.We examined 300 SAD patients without family history (120 males and 180 females,average age 72.57±7.56 years),along with an equal number of age- and sex-matched controls (average age 70.97±6.73 years).The diagnosis of Alzheimer's disease was made acconding to NINCDS-ADRDA criteria.Genomic DNA was extracted from blood of patients and controls.PSEN2 gene exon sequences were determined by polymerase chain reaction and DNA sequencing.Results We found point mutation of l00G＞A (G34S) on exon3 and that of 1915C＞T (87H) on exon4.Conclusion The two point mutations were on the N'-terminal fragment in the non-functional region of presenilin-2 protein,so they may not be related to SAD.关键词
阿尔茨海默病/早老素2/基因突变分类
医药卫生引用本文复制引用
白云峰,田菊,权文香,前田潔..散发性阿尔茨海默病早老素2基因的新突变[J].中国医科大学学报,2011,40(4):357-359,363,4.
