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目的 研究1个中国早发性家族性阿尔茨海默病(early-onset family Alzheimer's disease,EOFAD)家系的临床表型以及基因突变.方法 收集1个EOFAD家系,分析患者及其家族成员的临床表现及辅助检查结果.采集先证者及其家族成员的血样,提取基因组DNA,采用直接测序法对先证者淀粉样前体蛋白(β-amyloid precursor protein,APP)基因、早老素-1(presenilin 1,PSEN1)基因、载脂蛋白E(apolipoprotein E,APOE)基因进行基因检测.根据先证者的基因检测结果,对10名家族成员针对突变基因进行基因检测.结果 先证者(Ⅲ1)APOE基因基因型为ε2/ε2、APP基因未发现序列异常,先证者及4个家族成员(Ⅳ1、Ⅳ12、Ⅳ21、Ⅴ2)的PSEN1基因第6外显子发生c.488A＞G突变,导致所编码的PSEN1蛋白的第163位氨基酸由组氨酸变为精氨酸(p.His163Arg).结论 在一个EOFAD家系中发现了PSEN1基因第6外显子c.488A＞G突变.

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 β-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 ε2 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).Conclusion A mutation (c.488A＞G,p.His163Arg) of PSEN1 gene was found in a Chinese family affected with EOFAD.