Consensus characterization of 16 FMR1 reference materials: a consortium study
| Autor: | Lidia Epp, Lawrence M. Silverman, Victoria M. Pratt, Jean Amos Wilson, C. Sue Richards, Kasinathan Muralidharan, Scott J. Bridgeman, W. Edward Highsmith, Ebony M. Courtney, Amit Phansalkar, Jeanne C. Beck, John P. Jakupciak, Leonard M. Holtegaard, Monique A. Johnson, Paul Labrousse, Nick L. Hjelm, Elaine Lyon, Andrea Ferreira-Gonzalez, Thomas W. Prior, Joanna Wiszniewska, Kristy L. Richie, Elizabeth M. Rohlfs, Karen A. Siegrist, Lisa V. Kalman, Tina Sellers, Benjamin B. Roa, Mohamed Jama, Stephanie L. Sherman |
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| Rok vydání: | 2008 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities Ataxia Consensus Molecular Sequence Data Biology Pathology and Forensic Medicine Cell Line Fragile X Mental Retardation Protein Special Article medicine Humans Allele Alleles Genetic testing Genetics medicine.diagnostic_test Base Sequence Molecular pathology Sequence Analysis DNA Reference Standards medicine.disease FMR1 Premature ovarian failure Fragile X syndrome Blotting Southern Molecular Medicine Biological Assay Female medicine.symptom Trinucleotide repeat expansion Trinucleotide Repeat Expansion |
| Zdroj: | The Journal of molecular diagnostics : JMD. 10(1) |
| ISSN: | 1525-1578 |
| Popis: | 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 (CGG)(n) repeat, the size limitations of conventional PCR, and a lack of reference materials available for test development/validation and routine quality control. The Centers for Disease Control and Prevention and the Association for Molecular Pathology, together with the genetic testing community, have addressed the need for characterized fragile X mutation reference materials by developing characterized DNA samples from 16 cell lines with repeat lengths representing important phenotypic classes and diagnostic cutoffs. The alleles in these materials were characterized by consensus analysis in nine clinical laboratories. The information generated from this study is available on the Centers for Disease Control and Prevention and Coriell Cell Repositories websites. DNA purified from these cell lines is available to the genetics community through the Coriell Cell Repositories. The public availability of these reference materials should help support accurate clinical fragile X syndrome testing. |
| Databáze: | OpenAIRE |
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