Multiplex methylation specific PCR analysis of fragile X syndrome: experience in Songklanagarind Hospital.

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dc.contributor.authorCharalsawadi, Chariyawanen_US
dc.contributor.authorSripo, Thanyaen_US
dc.contributor.authorLimprasert, Pornproten_US
dc.date.accessioned2009-05-27T20:12:02Z
dc.date.available2009-05-27T20:12:02Z
dc.date.issued2005-08-13en_US
dc.descriptionChotmaihet Thangphaet.en_US
dc.description.abstractMethylation specific PCR (MS-PCR) is a technology for a sensitive detection of methylation in the gene. This assay was developed for diagnosis of methylation-related diseases including fragile X syndrome (FXS), the most common X-linked mental retardation caused by a CGG trinucleotide repeat expansion. Affected individuals (full mutation, FM) have CGG greater than 200 repeats, while normal individuals and premutation (PM) carriers have 6-54 and 55-200 repeats, respectively. Only FM individuals are correlated with methylation of the gene. The authors tested this assay on known 35 DNA samples (15 normal, 2 PM and 18 FM) and a prospective study of 60 males referred for FXS screening in Songklanagarind hospital. In addition, the authors tested on 2 prenatal cases. All results were corresponded to PCR for CGG repeats and/ or Southern blot analysis. The authors concluded that MS-PCR provides an accurate method for methylation detection of FXS.en_US
dc.description.affiliationDepartment of Biomedical Science, Faculty of Medicine, Prince of Songkla University, Songkhla, Thailand.en_US
dc.identifier.citationCharalsawadi C, Sripo T, Limprasert P. Multiplex methylation specific PCR analysis of fragile X syndrome: experience in Songklanagarind Hospital. Journal of the Medical Association of Thailand. 2005 Aug; 88(8): 1057-61en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/42557
dc.language.isoengen_US
dc.source.urihttps://www.mat.or.th/journal/all.phpen_US
dc.subject.meshDNA Methylationen_US
dc.subject.meshFragile X Mental Retardation Protein --geneticsen_US
dc.subject.meshFragile X Syndrome --diagnosisen_US
dc.subject.meshGenetic Markersen_US
dc.subject.meshHospitals, Universityen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshPolymerase Chain Reaction --methodsen_US
dc.subject.meshProspective Studiesen_US
dc.subject.meshRepetitive Sequences, Nucleic Aciden_US
dc.subject.meshThailanden_US
dc.subject.meshTrinucleotide Repeatsen_US
dc.titleMultiplex methylation specific PCR analysis of fragile X syndrome: experience in Songklanagarind Hospital.en_US
dc.typeIn Vitroen_US
dc.typeJournal Articleen_US
dc.typeResearch Support, Non-U.S. Gov'ten_US
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