Point mutation in exon 4 of presenilin-1 gene and early-onset familial Alzheimer disease  

作　　者：Yu Liao Fan Zhao 

机构地区：[1]Department of Neurology, Second People＇s Hospital of Wuxi, Wuxi 214002, Jiangsu Province, China

出　　处：《Neural Regeneration Research》2006年第6期493-496,共4页中国神经再生研究（英文版）

摘　　要：BACKGROUND: A total of 50 missense mutations of presenilin-1 (PS-1) have been found thus far in early-onset familial Alzheimer disease (EOFAD), PS-1 gene might be a causative gene for Chinese EOFAD. OBJECTIVE: To investigate mutation of PS-1 gene in the blood of Chinese patients with familial Alzheimer disease (FAD). DESIGN: A design with randomized control and repeated sequencing. SETTING: Department of Neurology, the Second People’s Hospital of Wuxi. PARTICIPANTS: The experiment was carried out in Huaihua Hospital Affiliated to Nanhua University in September 1993. Eight FAD patients were graded as FAD group. There were 6 males and 2 females with the mean age of (36±16) years. The control group was composed of 42 persons, including 8 hospitalized SAD patients diagnosed according to the criteria of Practical Neuralgia and conformed to the revised fourth edition of the Diagnostic and Statistical Manual of Mental Disorders (DCM-Ⅳ-TR), 11 dementia patients caused by multiple cerebral infarction, 13 normal persons in the FAD family mentioned above family, and 10 normal healthy adults provided by the health examination section of our hospital. METHODS: GeneAmp PCR System 2400 (Applied Biosystems, USA), DNA-Sequencer Model 310 (Perkin Elmer, USA), Taq DNA Polymerase (Fermentas, Canada). All reagents used for DNA extraction were prepared with analytical reagents manufactured in China. The samples were stratified carefully, collected the leukocytic cream from the interface, added STMT to each sample and vortexed to suspend evenly. Then the samples were centrifugated. The nuclear pellet was resuspended in digestion solution with proteinase K and incubated under appropriate condition. Genomic DNA was extract with phenol/chloroform, precipitated with dehydrated ethanol, and washed with 70% sterilized ethanol. Finally, genomic DNA was dissolved in ultra pure water and stored for later use. The sequences were 5’-ACT AAC AAT GGA TGA CCT GGT GAA ATC-3’ and 3’-ACG GTC TGA CCT AAG TGA ATA GTA GAG -5’ to flank the exoBACKGROUND： A total of 50 missense mutations of presenilin-1 （PS-1） have been found thus far in early-onset familial Alzheimer disease （EOFAD）, PS-1 gene might be a causative gene for Chinese EOFAD. OBJECTIVE： To investigate mutation of PS-1 gene in the blood of Chinese patients with familial Alzheimer disease （FAD）. DESIGN ： A design with randomized control and repeated sequencing SETTING： Department of Neurology, the Second People＇s Hospital of Wuxi PARTICIPANTS： The experiment was carried out in Huaihua Hospital Affiliated to Nanhua University in September 1993. Eight FAD patients were graded as FAD group. There were 6 males and 2 females with the mean age of （36±16） years. The control group was composed of 42 persons, including 8 hospitalized SAD patients diagnosed according to the criteria of Practical Neuralgia and conformed to the revised fourth edition of the Diagnostic and Statistical Manual of Mental Disorders （DCM-Ⅳ-TR）, 11 dementia patients caused by multipie cerebral infarction, 13 normal persons in the FAD family mentioned above family, and 10 normal healthy adults provided by the health examination section of our hospital. METHODS： GeneAmp PCR System 2400 （Applied Biosystems, USA）, DNA-Sequencer Model 310 （Perkin Elmer, USA）, Taq DNA Polymerase （Fermentas, Canada）. All reagents used for DNA extraction were prepared with analytical reagents manufactured in China. The samples were stratified carefully, collected the leukocytic cream from the interface, added STMT to each sample and vortexed to suspend evenly. Then the samples were centrifugated. The nuclear pellet was resuspended in digestion solution with proteinase K and incubated under appropriate condition. Genomic DNA was extract with phenol/chloroform, precipitated with dehydrated ethanol, and washed with 70% sterilized ethanol. Finally, genomic DNA was dissolved in ultra pure water and stored for later use. The sequences were 5＇-ACT AAC AAT GGA TGA CCT GGT GAA ATC-3＇ and 3＇-ACG G

关 键 词：外显子4 基因突变 阿尔兹海默症 病理机制 

分 类 号：R764.3[医药卫生—耳鼻咽喉科]