No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients
No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients
复制标题
59 名自闭症患者的雷特综合征基因 MECP2 编码区没有突变
DOI：
--
复制
发表时间：
2001
影响因子：
5.2
通讯作者：
C. Andres
中科院分区：
文献类型：
--
作者：
P. Vourc'h;T. Bienvenu;C. Beldjord;J. Chelly;C. Barthélémy;J. Müh;C. Andres
自闭症是一种普遍存在的发育障碍，被认为有多基因起源。75%的自闭症患者存在精神发育迟缓。自闭症在雷特综合征中被发现，这是一种影响女孩的神经疾病，并与严重的精神发育迟缓有关。最近，通过候选基因策略在X染色体上发现了与Rett综合征相关的基因，即甲基CpG结合蛋白基因(MECP2)。在一些智力落后的男性身上也观察到了这种基因的突变。在这项研究中，我们通过对MECP2编码区和内含子-外显子边界的DGGE分析，测试了MECP2作为自闭症的候选基因。在59例自闭症患者中，男性42例，女性17例，无论是否智力低下，MECP2基因均未出现突变或多态。考虑到我们样本的大小，我们得出结论，MECP2编码序列突变在自闭症疾病的病因学中不是一个重要因素(不到5%的病例)。
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.
影响因子：
9.8
作者：
Risch, N;Spiker, D;Myers, RM
通讯作者：
Myers, RM