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目的探讨脑源性神经生长因子(BDNF)基因二核苷酸多态性与儿童孤独症的关系。方法2001—2004在四川大学华西医院心理卫生中心及华西医院第二医院按照ICD-10及CCMD-3儿童孤独症诊断标准纳入研究对象,以儿童孤独症评定量表判断疾病的严重程度,并用儿童生长发育调查记录表进行一般情况评估。在华西医院心理卫生中心门诊收集75例儿童孤独症患者的临床资料,以孤独症核心家系为研究对象,用PCR扩增进行神经发育相关的BDNF基因的二核苷酸重复多态性位点的检测,采用传递不平衡检验进行统计分析。结果BDNF基因二核苷酸重复多态性与重度儿童孤独症存在关联或连锁不平衡(χ2=7.31,P=0.025)。结论重度儿童孤独症的发病可能与BDNF基因二核苷酸多态性有关,BDNF基因二核苷酸多态性在轻-中度和重度儿童孤独症中可能具有不同的遗传学作用。
Objective To investigate the relationship between BDNF dinucleotide polymorphisms and autism in children. Methods From 2001 to 2004, we recruited the mental health center of West China Hospital of Sichuan University and the Second Hospital of West China Hospital according to diagnostic criteria for autistic children of ICD-10 and CCMD-3. The children’s autism assessment scale was used to determine the severity of the disease. Growth and development survey questionnaire for general assessment. The clinical data of 75 children with autism were collected in the Outpatient Department of Mental Health Center of West China Hospital. The nuclear family of autism was used as the research object. The BDNF gene dinucleotide repeat polymorphism locus Testing, the use of transmission imbalance test for statistical analysis. Results The dinucleotide repeat polymorphism of BDNF gene was associated with or not linked to autism in severe children (χ2 = 7.31, P = 0.025). Conclusions The incidence of autism in severe children may be related to the dinucleotide polymorphism of BDNF gene. BDNF gene dinucleotide polymorphism may have different genetic effects in autistic children with mild to moderate severity.