BDNF基因二核苷酸多态性与儿童孤独症的关系  

The correlative analysis between dinucleotide repeat polymorphism of BDNF gene and autism

作　　者：周家秀[1] 郭兰婷[2] 黄雪竹[1] 吴康敏[1] 王英成[1] 张芳蓉[1] 季卫东[1] 黄晓琦[1] 

机构地区：[1]深圳市儿童医院儿童保健科,518026 [2]四川大学华西医院心理卫生中心

出　　处：《中国妇幼保健》2007年第11期1483-1485,共3页Maternal and Child Health Care of China

摘　　要：目的:探讨BDNF基因二核苷酸多态性的等位基因及基因型与儿童孤独症的关系。方法:按照ICD-10及CCMD-3的儿童孤独症诊断标准,以儿童孤独症评定量表、孤独症行为检查量表、儿童适应行为评定量表及儿童生长发育调查记录表作为评估、调查工具,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。根据儿童孤独症的神经发育障碍假说,以儿童孤独症为研究对象,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,用SPSS11.0进行统计分析。结果:含二核苷酸重复多态性的A1(174bp)等位基因与儿童孤独症的社会交往因子呈负相关,而含A3(170bp)等位基因与之呈正相关,患者的适应水平也受到相应影响。结论:二核苷酸重复多态性的A1等位基因可能对孤独症的症状表达具有抑制作用,而A3等位基因对孤独症的症状表达有促发作用,并且影响儿童孤独症患者的社会适应水平。Objective： To evaluate the relationship between dinucleotide repeat polymorphism of BDNF gene and autism. Methods： Seventy -five outpatients were recruited from Mental Health Center of West China Hospital, Sichuan University. Using Childhood Autism Rating Scale （ CARS）, Autism Behavior Checklist （ABC） , Children adaptable behavior Scale and Children development Questionnaire to evaluate or investigate. The diagnosis of children autistic disorder is based on ICD - 10 and CCMD - 3 criteria. According to the assumption of dysfunction in neurodevelopment of autism, the dinucleotide repeat polymorphism of brain - derived neurotrophic factor （BDNF） gene is detected and the relationship is analyzed between its allele with autistic disorder using SPSS 11. 0. Results： There was a positive correlation between allele A1 （174bp） and social intercourse factor of Autism Behavior Checklist （ ABC）, but allele A3 （170bp） is contrary, autistic children＇s adaptable level have corresponding change. Conclusion： Allele A1 and allele A3 of dinucleotide repeat polymorphism of BDNF gene may influence adaptable level of autistic children through Allele A1 restrained the experience of intercommunion obstacle of autistic symptoms and Allele A3 promoted it.

关 键 词：儿童孤独症 脑源性神经生长因子 多态性 

分 类 号：R174[医药卫生—妇幼卫生保健]