Dataset Information

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

ABSTRACT: 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.

SUBMITTER: Amos Wilson J

PROVIDER: S-EPMC2175538 | biostudies-literature | 2008 Jan

REPOSITORIES: biostudies-literature

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

Amos Wilson Jean J Pratt Victoria M VM Phansalkar Amit A Muralidharan Kasinathan K Highsmith W Edward WE Beck Jeanne C JC Bridgeman Scott S Courtney Ebony M EM Epp Lidia L Ferreira-Gonzalez Andrea A Hjelm Nick L NL Holtegaard Leonard M LM Jama Mohamed A MA Jakupciak John P JP Johnson Monique A MA Labrousse Paul P Lyon Elaine E Prior Thomas W TW Richards C Sue CS Richie Kristy L KL Roa Benjamin B BB Rohlfs Elizabeth M EM Sellers Tina T Sherman Stephanie L SL Siegrist Karen A KA Silverman Lawrence M LM Wiszniewska Joanna J Kalman Lisa V LV

The Journal of molecular diagnostics : JMD 20071228 1

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 materi ...[more]

PMID: 18165276

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Project description:Biomass compositional methods are used to compare different lignocellulosic feedstocks, to measure component balances around unit operations and to determine process yields and therefore the economic viability of biomass-to-biofuel processes. Four biomass reference materials (RMs NIST 8491-8494) were prepared and characterized, via an interlaboratory comparison exercise in the early 1990s to evaluate biomass summative compositional methods, analysts, and laboratories. Having common, uniform, and stable biomass reference materials gives the opportunity to assess compositional data compared to other analysts, to other labs, and to a known compositional value. The expiration date for the original characterization of these RMs was reached and an effort to assess their stability and recharacterize the reference values for the remaining material using more current methods of analysis was initiated. We sent samples of the four biomass RMs to 11 academic, industrial, and government laboratories, familiar with sulfuric acid compositional methods, for recharacterization of the component reference values. In this work, we have used an expanded suite of analytical methods that are more appropriate for herbaceous feedstocks, to recharacterize the RMs' compositions. We report the median values and the expanded uncertainty values for the four RMs on a dry-mass, whole-biomass basis. The original characterization data has been recalculated using median statistics to facilitate comparisons with this data. We found improved total component closures for three out of the four RMs compared to the original characterization, and the total component closures were near 100 %, which suggests that most components were accurately measured and little double counting occurred. The major components were not statistically different in the recharacterization which suggests that the biomass materials are stable during storage and that additional components, not seen in the original characterization, were quantified here.

Dataset Information

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

Publications

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

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