Article
High-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2011
Chen Liangjing, Hadd Andrew, Sah Sachin, Houghton Jeffrey F, Filipovic-Sadic Stela, Zhang Wenting, Hagerman Paul J, Tassone Flora, Latham Gary J
Abstract excerpt
PURPOSE: Fragile X syndrome is associated with the expansion of CGG trinucleotide repeats and subsequent methylation of the FMR1 gene. Molecular diagnosis of fragile X currently requires Southern blot analysis to assess methylation. This study describes the evaluation of a polymerase chain reaction-only workflow for the determination of methylation status across a broad range of FMR1 genotypes in male and female...
Topics
- Blotting, Southern
- Cell Line
- DNA Methylation
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Humans
- Male
- Mutation
- Polymerase Chain Reaction