Association Study Of The Children's Mental Retardation And The Third Exon Of MeCP2 Gene

Objective: To investigate the relationship between the third exon of methyl-CpG-binding protein 2( MeCP2) gene mutations and the children mental retardation (MR) phenotype.Methods: DNA was extracted directly from white blood cells and the technology of polymerase chain reaction (PCR) was used to amplify the number of the MeCP2 gene. PCR products were separated and analyzed to find out whether there is any relationship between the third exon of MeCP2 gene mutations and the children MR phenotype.Results: 1. No any mutations of the third exon of MeCP2 gene were found in the 30 normal children but two children were found having gene mutations on the third exon of MeCP2 in the 30 cases of MR children, including 1 female and 1 male. 2. Mutations of the third exon of MeCP2 gene in MR children have not significantly different in statistics.Conclusion: 1. There are gene mutations on the third exon of MeCP2 in MR children. 2. The association between the third exon of MeCP2 gene mutations and the MR children was not proved.