Article
Skewed X inactivation of the normal allele in fully mutated female carriers determines the levels of FMRP in blood and the fragile X phenotype.
Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology - 1 Jan 2005
Martínez Raquel, Bonilla-Henao Victoria, Jiménez Antonio, Lucas Miguel, Vega Carmen, Ramos Inmaculada, Sobrino Francisco, Pintado Elizabeth
Abstract excerpt
BACKGROUND: The variable phenotype in female carriers of a full mutation is explained in part by non-random X-chromosome inactivation. The molecular diagnosis of fragile X syndrome is based on the resolution of the number of CGG triplet repeats and the methylation status of a critical CpG in the fragile X mental retardation gene (FMR1) promoter. Neighboring CpGs in the FMR1 promoter are supposed to be equally...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.