[Mutation analysis of presenilin 1 gene in a Chinese family affected with early-onset familial Alzheimer's disease].
OBJECTIVE
To explore the clinical phenotype and genotype in a Chinese family affected with early-onset familial Alzheimer's disease (EOFAD).


METHODS
Potential mutation of beta-amyloid precursor protein (APP) gene, presenilin 1 (PSEN1) gene and apolipoprotein E (APOE) gene was detected with polymerase chain reaction (PCR) and direct sequencing.


RESULTS
Homozygous APOE ε 2 allele and no gene mutation of APP gene were detected in the proband (III1). A 488A>G mutation (His163Arg) of the PSEN1 gene was found in the proband and other 4 family members (IV1, IV12, IV21, V2).


CONCLUSIONS
A mutation (c.488A>G, p.His163Arg) of PSEN1 gene was found in a Chinese family affected with EOFAD.
Department of Neurology, First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi 530021, China. hwen1229@163.com.
Hua
H
Lin
Wen
W
Huang
Biao
B
Ye
Xiaoting
X
Zhou
Xuean
X
Mo
D000328:Adult; D017668:Age of Onset; D000368:Aged; D000544:Alzheimer Disease / Q000235:genetics*; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D053764:Presenilin-1 / Q000235:genetics*
C508853:PSEN1 protein, human; D053764:Presenilin-1