Jönsson E, Björck E, Wahlström J, Gustavsson P, Sedvall G
Department of Clinical Neuroscience, Karolinska Hospital, Stockholm, Sweden.
Psychiatr Genet. 1995 Winter;5(4):157-60. doi: 10.1097/00041444-199524000-00002.
Patients diagnosed using DSM-III-R criteria as having schizophrenia and other related disorders (n = 128) were assessed for CGG trinucleotide repeat expansion in the fragile X mental retardation 1 (FMR-1) gene. One subject, a woman with schizophreniform disorder, was found to have a premutation of the gene. Her case report is given. The present investigation supports the view that mutation or premutation of the FMR-1 gene is not of importance for the aetiology of the vast majority of schizophrenic patients.
使用《精神疾病诊断与统计手册》第三版修订版（DSM-III-R）标准诊断为患有精神分裂症及其他相关障碍的患者（n = 128），接受了脆性X智力低下1（FMR-1）基因中CGG三核苷酸重复序列扩增的评估。发现一名患有精神分裂症样障碍的女性受试者该基因存在前突变。给出了她的病例报告。本研究支持这样一种观点，即FMR-1基因的突变或前突变对绝大多数精神分裂症患者的病因并不重要。
