北京大学学报（医学版）2013，Vol.45Issue(2)：197-201,5.DOI:10.3969/j.issn.1671-167X.2013.02.007
男性孤独症儿童甲基CpG结合蛋白-2基因突变的分析
Mutational analysis of the methyl-CpG-binding protein 2 (MECP2) gene in male autism patients
摘要
Abstract
Objective:To investigate mutations in the methyl-CpG-binding protein 2 (MECP2) gene in male autism patients by PCR, denaturing high-performance liquid chromatography (DHPLC) and sequencing to explore the role of mutations in MECP2 in autism patients. Methods: We recruited DNA samples from 44 male autism patients who matched the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DMS-Ⅳ) standards. DHPLC was used to screen the mutations in MECP2 gene, and DNA sequencing was performed for the samples with positive DHPLC results. The family members were further investigated in the patients with missense mutations in MECP2 gene. Results: Four cases were found to have mutations in MECP2 gene, including missense mutations of c. 590C >T(T197M)in one case and C.602C >T(A201V)in one case, and synonymous mutations of c. 1053C > G in one case and c. 897C > T in one case. In addition, we found C > T variation in intron 3 at the + 74 bp before exon 4, a SNP (rs2071569) usually detected in Chinese population. In the case with c. 602C >T(A201V) mutation, his mother and maternal grandfather had the same mutation. His mother had normal pheno-type, but his maternal grandfather had depressive disease. Conclusion: Mutations in MECP2 are present in male autism patients with relatively higher prevalence, suggesting that these mutations may play roles in the pathogenesis of autism.关键词
甲基-CpG-结合蛋白质2/孤独性障碍/突变/色谱法,高压液相/儿童Key words
Methyl-CpG-binding protein 2/ Autistic disorder/ Mutation/ Chromatography, high pressure liquid/ Child分类
医药卫生引用本文复制引用
王三梅,李明,杨艳玲,潘虹,刘靖,潘凯枫,卜定方..男性孤独症儿童甲基CpG结合蛋白-2基因突变的分析[J].北京大学学报（医学版）,2013,45(2):197-201,5.基金项目
北京市自然科学基金(7012019)资助 （7012019）
