Vourc'h P, Bienvenu T, Beldjord C, Chelly J, Barthélémy C, Müh J P, Andres C
Laboratoire de Biochimie et Biologie Moléculaire, INSERM U 316, 2 bis Bd Tonnellé, 37032 Tours Cedex, France.
Eur J Hum Genet. 2001 Jul;9(7):556-8. doi: 10.1038/sj.ejhg.5200660.
Autistic disorder is a pervasive developmental disorder considered to have a multigenic origin. Mental retardation is present in 75% of autistic patients. Autistic features are found in Rett syndrome, a neurological disorder affecting girls and associated with severe mental retardation. Recently, the gene responsible for the Rett syndrome, methyl CpG-binding protein (MECP2) gene, was identified on the X chromosome by a candidate gene strategy. Mutations in this gene were also observed in some mentally retarded males. In this study we tested MECP2 as a candidate gene in autistic disorder by a DGGE analysis of its coding region and intron-exon boundaries. Among 59 autistic patients, 42 males and 17 females, mentally retarded or not, no mutations or polymorphisms were present in the MECP2 gene. Taking into account the size of our sample, we conclude that MECP2 coding sequence mutations are not an important factor (less than 5% of cases) in the aetiology of autistic disorder.
孤独症是一种广泛性发育障碍，被认为具有多基因起源。75%的孤独症患者存在智力障碍。雷特综合征是一种影响女孩的神经疾病，伴有严重智力障碍，其中也发现有孤独症特征。最近，通过候选基因策略在X染色体上鉴定出了导致雷特综合征的基因——甲基CpG结合蛋白（MECP2）基因。在一些智力障碍男性中也观察到了该基因的突变。在本研究中，我们通过对MECP2编码区及其内含子-外显子边界进行变性梯度凝胶电泳（DGGE）分析，将其作为孤独症的候选基因进行检测。在59例孤独症患者中，包括42名男性和17名女性，无论是否伴有智力障碍，MECP2基因均未出现突变或多态性。考虑到我们样本的规模，我们得出结论，MECP2编码序列突变在孤独症病因学中并非重要因素（病例占比不到5%）。
