Article
An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis.
The Journal of molecular diagnostics : JMD - 1 Sept 2010
Chen Liangjing, Hadd Andrew, Sah Sachin, Filipovic-Sadic Stela, Krosting Julie, Sekinger Edward, Pan Ruiqin, Hagerman Paul J, Stenzel Timothy T, Tassone Flora, Latham Gary J
Abstract excerpt
(CGG)(n) repeat expansion in the FMR1 gene is associated with fragile X syndrome and other disorders. Current methods for FMR1 molecular testing rely on Southern blot analysis to detect expanded alleles too large to be PCR-amplified and to identify female homozygous alleles that often confound interpretations of PCR data. A novel, single-tube CGG repeat primed FMR1 PCR technology was designed with two...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.