High Resolution Methylation PCR for Fragile X Analysis: Evidence for Novel FMR1 Methylation Patterns Undetected in Southern Blot Analyses

PURPOSE: Fragile X syndrome is associated with the expansion of CGG trinucleotide repeats and subsequent methylation of the fragile X mental retardation-1 (FMR1) gene. Molecular diagnosis of fragile X currently requires Southern blot analysis to assess methylation. This study describes the evaluatio...

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Main Authors: Chen, Liangjing, Hadd, Andrew, Sah, Sachin, Houghton, Jeffrey F., Filipovic-Sadic, Stela, Zhang, Wenting, Hagerman, Paul J., Tassone, Flora, Latham, Gary J.
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4043840/
https://ncbi.nlm.nih.gov/pubmed/21430544
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/GIM.0b013e31820a780f
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