Article
MS-MLPA analysis for FMR1 gene: evaluation in a routine diagnostic setting.
BMC medical genetics - 5 Aug 2013
Gatta Valentina, Gennaro Elena, Franchi Sara, Cecconi Massimiliano, Antonucci Ivana, Tommasi Marco, Palka Giandomenico, Coviello Domenico, Stuppia Liborio, Grasso Marina
Abstract excerpt
BACKGROUND: Fragile X Syndrome (FXS), the most common cause of familiar mental retardation, is associated in over 99% of cases to an expansion over 200 repeats of a CGG sequence in the 5' UTR of the FMR1 gene (Xq27.3), leading to the hypermethylation of the promoter. Molecular diagnosis of FXS have been so far based on the use of the Southern Blot (SB) analysis, a low throughput and time consuming technique. In...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.