Buckton K E, Whalley L J, Lee M, Christie J E
J Med Genet. 1983 Feb;20(1):46-51. doi: 10.1136/jmg.20.1.46.
Lymphocyte chromosomes were examined in 36 patients with Alzheimer's presenile dementia, 36 healthy, age and sex matched controls, and 36 sex matched, non-demented, elderly controls, approximately 20 years older than the Alzheimer patients. Increased chromosome aneuploidy was found in females with Alzheimer's disease but not in male subjects. Chromosome abnormalities observed in female patients were similar to those observed in elderly controls, though in this latter group there was an increase in the frequency of cells that had lost an X chromosome. In the female Alzheimer patients and the elderly controls, there was an increase in the frequency of autosomal aneuploid cells but no single chromosome was preferentially affected. Because the chromosome abnormalities found in Alzheimer's disease are similar in nature but not as extensive as those observed in senescence in the absence of dementia, it is argued that chromosome aneuploidy is more likely to be related to processes concerned with ageing rather than being specifically linked to the dementia of Alzheimer's disease.
对36例早老性阿尔茨海默病痴呆患者、36名年龄和性别匹配的健康对照者以及36名性别匹配、无痴呆的老年对照者(比阿尔茨海默病患者大20岁左右)的淋巴细胞染色体进行了检查。在患阿尔茨海默病的女性中发现染色体非整倍性增加,而男性受试者未出现这种情况。女性患者中观察到的染色体异常与老年对照者中观察到的相似,不过在后一组中丢失一条X染色体的细胞频率有所增加。在女性阿尔茨海默病患者和老年对照者中,常染色体非整倍体细胞的频率增加,但没有单一染色体受到优先影响。由于在阿尔茨海默病中发现的染色体异常本质上相似,但不如在无痴呆的衰老过程中观察到的广泛,因此有人认为染色体非整倍性更可能与衰老过程有关,而不是与阿尔茨海默病痴呆症有特定联系。