Article
Tissue-specific methylation differences in a fragile X premutation carrier.
Clinical genetics - 1 May 1999
Tassone F, Longshore J, Zunich J, Steinbach P, Salat U, Taylor A K
Abstract excerpt
Methylation of a premutation was found in a small percentage of blood cells in a male premutation carrier for the FMR1 mutation. To investigate the inter-tissue heterogeneity and possible clinical implications of this finding, fibroblast cells from the subject were also studied. Although the premutation size was found to be the same in leukocytes and fibroblasts, the methylation pattern was different. In cultured...
Topics
- DNA
- DNA Methylation
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Genetic Carrier Screening
- Humans
- Immunohistochemistry
- Male
- Mutation
- Nerve Tissue Proteins
