Mutation Analysis Of Presenilin 1 Gene In A Chinese Family With Early-Onset Family Alzheimer's Disease

Objective To explore the clinical phenotype and genotype in a Chinese early-onset familial Alzheimer's disease(EOFAD).Methods Mutation analysis of ?-amyloid precursor protein(APP)gene,presenilin(PSEN)1 gene and apolipoprotein E(APOE)gene was performed in a EOFAD family by polymerase chain reaction(PCR)and direct DNA sequencing.Results Homozygous APOE s2 allele and no gene mutation of APP gene were detected in the proband(?-1).A mutation(488A>G,His163Arg)of PSEN1 gene was found in the proband and other 4 family members(?-1??-12??-21??-2).Conclusions A mutation(488A>G,His 163Arg)of PSEN1 gene was found in a Chinese family with EOFAD.