Consensus characterization of 16 FMR1 reference materials: a consortium study.

doi:10.2353/jmoldx.2008.070105

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Article

Consensus characterization of 16 FMR1 reference materials: a consortium study.

The Journal of molecular diagnostics : JMD - 1 Jan 2008

Amos Wilson Jean, Pratt Victoria M, Phansalkar Amit, Muralidharan Kasinathan, Highsmith W Edward, Beck Jeanne C, Bridgeman Scott, Courtney Ebony M, Epp Lidia, Ferreira-Gonzalez Andrea, Hjelm Nick L, Holtegaard Leonard M, Jama Mohamed A, Jakupciak John P, Johnson Monique A, Labrousse Paul, Lyon Elaine, Prior Thomas W, Richards C Sue, Richie Kristy L, Roa Benjamin B, Rohlfs Elizabeth M, Sellers Tina, Sherman Stephanie L, Siegrist Karen A, Silverman Lawrence M, Wiszniewska Joanna, Kalman Lisa V

Abstract excerpt

Fragile X syndrome, which is caused by expansion of a (CGG)(n) repeat in the FMR1 gene, occurs in approximately 1:3500 males and causes mental retardation/behavioral problems. Smaller (CGG)(n) repeat expansions in FMR1, premutations, are associated with premature ovarian failure and fragile X-associated tremor/ataxia syndrome. An FMR1-sizing assay is technically challenging because of high GC content of the...

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Identifiers

PMID: 18165276
DOI: 10.2353/jmoldx.2008.070105
PMCID: PMC2175538

Genes

FMR1

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