Garofalo G, Ragusa R M, Argiolas A, Scavuzzo C, Spina E, Barletta C
OASI Institute for Research on Mental Retardation and Brain Ageing, Troina(en), Italy.
Ann Genet. 1993;36(2):132-5.
Chromosomal fragility and other chromosomal abnormalities were frequently observed in subjects with neuropsychiatric disorders, such as fragile X syndrome, autism or schizophrenia, but only for the first one the fragility is accepted to be associated to a specific pathology, so that it is used as a diagnostic marker. In this study the authors analyzed 50 schizophrenic males, searching for the rare fragile sites or other aberrations with the method suitable for fra(X) detection. Chromosomes from schizophrenic patients resulted more fragile than those from normal controls, especially chromosome 9. The authors discuss the implications of a possible association of these data with the aetiopathogenesis of schizophrenic syndrome.
在患有神经精神疾病的受试者中,如脆性X综合征、自闭症或精神分裂症,经常观察到染色体脆性和其他染色体异常,但只有第一种疾病的脆性被认为与特定病理相关,因此它被用作诊断标志物。在这项研究中,作者分析了50名男性精神分裂症患者,采用适合检测脆性X的方法寻找罕见的脆性位点或其他畸变。精神分裂症患者的染色体比正常对照者的染色体更易脆,尤其是9号染色体。作者讨论了这些数据与精神分裂症综合征病因发病机制可能关联的意义。