CANDIDATE GENE FOR THE CHROMOSOME-1 FAMILIAL ALZHEIMERS-DISEASE LOCUS
CANDIDATE GENE FOR THE CHROMOSOME-1 FAMILIAL ALZHEIMERS-DISEASE LOCUS
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DOI：
10.1126/science.7638622
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发表时间：
1995-08-18
期刊：
影响因子：
56.9
通讯作者：
TANZI, RE
中科院分区：
文献类型：
--
作者：
LEVYLAHAD, E;WASCO, W;TANZI, RE
确定了1号染色体阿尔茨海默病（AD）基因座的候选基因（STM 2）。STM2的预测氨基酸序列与最近克隆的14号染色体AD基因（S182）的氨基酸序列同源。在伏尔加德国AD患者中发现了STM 2的一个点突变，导致异亮氨酸取代天冬酰胺（N141 I）。该N141 I突变发生在人S182和小鼠S182同源物中保守的氨基酸残基处。在AD受试者中两个高度相似的基因中存在错义突变，强烈支持这两个基因中的突变都是致病性的假设。
A candidate gene for the chromosome 1 Alzheimer's disease (AD) locus was identified (STM2). The predicted amino acid sequence for STM2 is homologous to that of the recently cloned chromosome 14 AD gene (S182). A point mutation in STM2, resulting in the substitution of an isoleucine for an asparagine (N141I), was identified in affected people from Volga German AD kindreds. This N141I mutation occurs at an amino acid residue that is conserved in human S182 and in the mouse S182 homolog. The presence of missense mutations in AD subjects in two highly similar genes strongly supports the hypothesis that mutations in both are pathogenic.