Multiplex methylation specific PCR analysis of fragile X syndrome: experience in Songklanagarind Hospital.
Methylation 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.
Charalsawadi
Chariyawan
C
Department of Biomedical Science, Faculty of Medicine, Prince of Songkla University, Songkhla, Thailand.
Sripo
Thanya
T
Limprasert
Pornprot
P
D019175:DNA Methylation; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics*; D005819:Genetic Markers; D006785:Hospitals, University; D006801:Humans; D066298:In Vitro Techniques; D008297:Male; D016133:Polymerase Chain Reaction / Q000379:methods*; D011446:Prospective Studies; D012091:Repetitive Sequences, Nucleic Acid; D013785:Thailand; D018911:Trinucleotide Repeats
D051860:Fragile X Messenger Ribonucleoprotein 1; D005819:Genetic Markers