MUTATIONS OF THE PRESENILIN-I GENE IN FAMILIES WITH EARLY-ONSET ALZHEIMERS-DISEASE
MUTATIONS OF THE PRESENILIN-I GENE IN FAMILIES WITH EARLY-ONSET ALZHEIMERS-DISEASE
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DOI：
10.1093/hmg/4.12.2373
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发表时间：
1995-12-01
影响因子：
3.5
通讯作者：
FREBOURG, T
中科院分区：
文献类型：
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作者：
CAMPION, D;FLAMAN, JM;FREBOURG, T
我们分析了12个常染色体显性早发性阿尔茨海默病（EOAD）家族中早老素I（PSNLI）基因编码区（对应于染色体14q24.3上的AD3位点）的突变。在8个家系中共检测到8个错义突变，分别位于密码子82、115、139、163、231、264、392和410，其中包括6个新突变。在三个家系中证实了突变与EOAD的共分离，其中一个家系包括36名受影响的个体。这项研究强调了PSNLI编码区内的巨大等位基因异质性和突变的大分布。我们的研究结果支持PSNLI是常染色体显性遗传EOAD的主要基因的观点。
We analyzed 12 families with autosomal dominant early-onset Alzheimer's disease (EOAD) for mutations in the coding region of the presenilin I (PSNLI) gene corresponding to the AD3 locus on chromosome 14q24.3. A total of eight missense mutations at codons 82, 115, 139, 163, 231, 264, 392, and 410, including six novel mutations, were identified in eight families. Cosegregation of the mutations with EOAD was confirmed in three families, one including 36 affected individuals, This study underlines the great allelic heterogeneity and the large distribution of the mutations within the PSNLI coding region. Our results support the notion that PSNLI is the major gene involved in autosomal dominant EOAD.