A Homogeneous Assay for Analysis of FMR1 Promoter Methylation in Patients with Fragile X Syndrome
Open Access
- 1 April 2007
- journal article
- Published by Oxford University Press (OUP) in Clinical Chemistry
- Vol. 53 (4) , 790-793
- https://doi.org/10.1373/clinchem.2006.080762
Abstract
Background: Fragile X syndrome is caused by the expansion of a CGG trinucleotide repeat at the 5′ untranslated region of the fragile X mental retardation 1 gene (FMR1). When expanded to >200 repeats (full mutation), the repeat region and the adjacent promoter CpG island become hypermethylated, rendering FMR1 transcriptionally inactive. Conventional molecular diagnosis of fragile X syndrome involves determination of the CGG repeat number by Southern blot analysis.Keywords
This publication has 20 references indexed in Scilit:
- Simplified Molecular Diagnosis of Fragile X Syndrome by Fluorescent Methylation-Specific PCR and GeneScan AnalysisClinical Chemistry, 2006
- Methylation-dependent fragment separation: Direct detection of DNA methylation by capillary electrophoresis of PCR products from bisulfite-converted genomic DNAAnalytical Biochemistry, 2006
- Robust fragile X (CGG)n genotype classification using a methylation specific triple PCR assayJournal of Medical Genetics, 2004
- Standardization of PCR amplification for fragile X trinucleotide repeat measurements*Clinical Genetics, 2002
- A methylation PCR approach for detection of fragile X syndromeHuman Mutation, 1999
- High-throughput analysis of Fragile X (CGG) n alleles in the normal and premutation range by PCR amplification and automated capillary electrophoresisHuman Genetics, 1997
- Normal phenotype in two brothers with a full FMR1 mutationHuman Molecular Genetics, 1995
- Mosaicism in fragile X affected malesAmerican Journal of Medical Genetics, 1994
- High sensitivity mapping of methylated cytosinesNucleic Acids Research, 1994
- Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental RetardationNew England Journal of Medicine, 1991