Murrell Jill, Ghetti Bernardino, Cochran Elizabeth, Macias-Islas Miguel Angel, Medina Luis, Varpetian Arousiak, Cummings Jeffrey L, Mendez Mario F, Kawas Claudia, Chui Helena, Ringman John M
Department of Pathology and Laboratory Medicine, University of Indiana Medical School, 635 Barnhill Drive, MS A128, Indianapolis, IN 46202-5126, USA.
Neurogenetics. 2006 Nov;7(4):277-9. doi: 10.1007/s10048-006-0053-1. Epub 2006 Aug 5.
Nine families with autosomal dominant Alzheimer's disease (AD), all of whom had the Ala431Glu substitution in the PSEN1 gene and came from Jalisco State in Mexico, have been previously reported. As they shared highly polymorphic flanking dinucleotide marker alleles, this strongly suggests that this mutation arose from a common founder. In the current letter, we expand this observation by describing an additional 15 independent families with the Ala431Glu substitution in the PSEN1 gene and conclude that this mutation is not an uncommon cause of early-onset autosomal dominant AD in persons of Mexican origin.
先前已报道过九个患有常染色体显性阿尔茨海默病（AD）的家族，他们都来自墨西哥哈利斯科州，且其早老素1（PSEN1）基因存在Ala431Glu替换。由于这些家族共享高度多态性的侧翼二核苷酸标记等位基因，这有力地表明该突变源自一个共同的祖先。在本信函中，我们通过描述另外15个PSEN1基因存在Ala431Glu替换的独立家族来扩展这一观察结果，并得出结论：在墨西哥裔人群中，这种突变是早发性常染色体显性AD的常见病因。
