Mutation analysis of presenilin 1 gene in a Chinese family affected with early-onset familial Alzheimer's disease.
- VernacularTitle:早发性家族性阿尔茨海默病一家系早老素-1基因突变的研究
- Author:
Hua LIN
1
,
2
;
Wen HUANG
;
Biao YE
;
Xiaoting ZHOU
;
Xuean MO
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Age of Onset; Aged; Alzheimer Disease; genetics; Child; Female; Humans; Male; Middle Aged; Mutation; Presenilin-1; genetics
- From: Chinese Journal of Medical Genetics 2016;33(3):324-327
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the clinical phenotype and genotype in a Chinese family affected with early-onset familial Alzheimer's disease (EOFAD).
METHODSPotential 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.
RESULTSHomozygous 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).
CONCLUSIONA mutation (c.488A>G, p.His163Arg) of PSEN1 gene was found in a Chinese family affected with EOFAD.
