孤独症儿童脆性位点精神发育迟滞1基因检测

Detection of Friagile X Mental Ratardation 1 Gene in Children with Autistic Disorder

目的对孤独症儿童进行脆性位点精神发育迟滞1(FMR-1)基因检测,探讨儿童孤独症与FMR-1基因的关系。方法孤独症患儿75例。用一般情况调查表进行调查,以儿童孤独症评定量表、孤独症行为检查量表筛查可疑患儿,按照中国精神障碍分类与诊断标准第3版(CCMD-3)的儿童孤独症诊断标准进行诊断和FMR-1基因检测。结果孤独症患儿FMR-1基因异常率极低,仅1.3%。结论儿童孤独症遗传学发病机制可能与FMR-1基因无关。

Objective To explore the relationship between autistic disorder and friagile X mental ratardation 1 （ FMR - 1 ） gene by detection FMR- 1 gene in children. Methods Using children - oriented questionnaire to investigate, then using child autism rating scale （CADS）, autism behavior checklist（ABC） screen out dubious patient of autistic, finally to ensure the diagnosis of children with autistic disorder was based on CCMD - 3 criteria. Seventy - five outpatients were recruited from mental health center of Westchina hospital affiliated to Sichuan university. FMR- 1 gene was detected in autistic children. Result The abnormal frequency of FMR - 1 gene was very low （ 1.3 % ） in children with autistic disorder. Conclusion There may be no correlative relationship between genetic pathogenesis of autistic disorder and FMR- 1 gene.