Analysis of Highly Conserved Regions of the 3’UTR of MECP2 Gene in Patients with Clinical Diagnosis of Rett Syndrome and Other Disorders Associated with Mental Retardation

@inproceedings{Santos2008AnalysisOH,
  title={Analysis of Highly Conserved Regions of the 3’UTR of MECP2 Gene in Patients with Clinical Diagnosis of Rett Syndrome and Other Disorders Associated with Mental Retardation},
  author={M{\^o}nica Pezenatto Dos Santos and Jin Yan and Teresa Temudo and Guiomar G Oliveira and Jos{\'e} Pedro Vieira and Jinong Fen and Steve Sommer and Patr{\'i}cia Maciel},
  booktitle={Disease markers},
  year={2008}
}
In this work we explored the role of the 3'UTR of the MECP2 gene in patients with clinical diagnosis of RTT and mental retardation; focusing on regions of the 3'UTR with almost 100% conservation at the nucleotide level among mouse and human. By mutation scanning (DOVAM-S technique) the MECP2 3'UTR of a total of 66 affected females were studied. Five 3'UTR variants in the MECP2 were found (c.1461+9G>A, c.1461+98insA, c.2595G>A, c.9961C>G and c.9964delC) in our group of patients. None of the… CONTINUE READING

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