BDNF基因二核苷酸多态性与儿童孤独症的关联研究  

Study on association between dinucleotide repeat polymorphism of BDNF gene and autism in children

作　　者：周家秀[1] 郭兰婷[1] 吴康敏[1] 王英成[1] 张芳蓉[1] 季卫东[1] 郭田友[1] 黄晓琦[1] 杨闯[1] 

机构地区：[1]深圳市儿童医院儿童保健科,广东深圳518026

出　　处：《中国实用儿科杂志》2006年第12期933-935,共3页Chinese Journal of Practical Pediatrics

摘　　要：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 The study aimed at evaluating the relationship between dinucleotide repeat polymorphism of BDNF gene and autism. Methods Seventy-five outpatients were recruited from Mental Hearth Center of West China Hospital, Sichuan University. The diagnosis of children autistic disorder was based on ICD-10 and CCMD-3 criteria, Childhood Autism patient＇s grade is done by the score of Childhood Autism Rating Scale（ CARs ）, their status being investigated using Children Development Questionnaire. Seventy-five autistic nuclear trios were detected by polymerase chain reaction. The association between autistic disorder and dinucleotide repeat polymorphism of brain-derived neurotrophic factor（ BDNF） gene in these trios was analysed using Transmission/disequilibrium test （TDT）. Results There was a linkage disequilibrium between dinucleotide repeat polymorphism of BDNF gene and severe autism （x^2 = 7, 31, P = 0. 025 ）. Conclusion Dinucleotide repeat polymorphism of BDNF gene may influence the development of children autistic disorder. Dinucleotide repeat polymorphism of BDNF gene may have different inherited effect on minor-moderate autistic disorder and in severe ones,

关 键 词：孤独症 脑源性神经营养因子基因 传递不平衡检验 

分 类 号：R72[医药卫生—儿科]