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Validation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR1 gene

In the present study, we evaluated a commercially available TP-PCR-based assay, the FastFraX(TM) FMR1 Sizing kit, as a test in quantifying the number of CGG repeats in the FMR1 gene. Based on testing with well characterized DNA samples from Coriell, the kit yielded size results within 3 repeats of t...

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Autores principales: Lim, Grace X. Y., Yeo, Minli, Koh, Yvonne Y., Winarni, Tri Indah, Rajan-Babu, Indhu-Shree, Chong, Samuel S., Faradz, Sultana M. H., Guan, Ming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5344422/
https://www.ncbi.nlm.nih.gov/pubmed/28278294
http://dx.doi.org/10.1371/journal.pone.0173279
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author Lim, Grace X. Y.
Yeo, Minli
Koh, Yvonne Y.
Winarni, Tri Indah
Rajan-Babu, Indhu-Shree
Chong, Samuel S.
Faradz, Sultana M. H.
Guan, Ming
author_facet Lim, Grace X. Y.
Yeo, Minli
Koh, Yvonne Y.
Winarni, Tri Indah
Rajan-Babu, Indhu-Shree
Chong, Samuel S.
Faradz, Sultana M. H.
Guan, Ming
author_sort Lim, Grace X. Y.
collection PubMed
description In the present study, we evaluated a commercially available TP-PCR-based assay, the FastFraX(TM) FMR1 Sizing kit, as a test in quantifying the number of CGG repeats in the FMR1 gene. Based on testing with well characterized DNA samples from Coriell, the kit yielded size results within 3 repeats of those obtained by common consensus (n = 14), with the exception of one allele. Furthermore, based on data obtained using all Coriell samples with or without common consensus (n = 29), the Sizing kit was 97.5% in agreement with existing approaches. Additionally, the kit generated consistent size information in repeatability and reproducibility studies (CV 0.39% to 3.42%). Clinical performance was established with 198 archived clinical samples, yielding results of 100% sensitivity (95% CI, 91.03% to 100%) and 100% specificity (95% CI, 97.64% to 100%) in categorizing patient samples into the respective normal, intermediate, premutation and full mutation genotypes.
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spelling pubmed-53444222017-03-29 Validation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR1 gene Lim, Grace X. Y. Yeo, Minli Koh, Yvonne Y. Winarni, Tri Indah Rajan-Babu, Indhu-Shree Chong, Samuel S. Faradz, Sultana M. H. Guan, Ming PLoS One Research Article In the present study, we evaluated a commercially available TP-PCR-based assay, the FastFraX(TM) FMR1 Sizing kit, as a test in quantifying the number of CGG repeats in the FMR1 gene. Based on testing with well characterized DNA samples from Coriell, the kit yielded size results within 3 repeats of those obtained by common consensus (n = 14), with the exception of one allele. Furthermore, based on data obtained using all Coriell samples with or without common consensus (n = 29), the Sizing kit was 97.5% in agreement with existing approaches. Additionally, the kit generated consistent size information in repeatability and reproducibility studies (CV 0.39% to 3.42%). Clinical performance was established with 198 archived clinical samples, yielding results of 100% sensitivity (95% CI, 91.03% to 100%) and 100% specificity (95% CI, 97.64% to 100%) in categorizing patient samples into the respective normal, intermediate, premutation and full mutation genotypes. Public Library of Science 2017-03-09 /pmc/articles/PMC5344422/ /pubmed/28278294 http://dx.doi.org/10.1371/journal.pone.0173279 Text en © 2017 Lim et al http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Article
Lim, Grace X. Y.
Yeo, Minli
Koh, Yvonne Y.
Winarni, Tri Indah
Rajan-Babu, Indhu-Shree
Chong, Samuel S.
Faradz, Sultana M. H.
Guan, Ming
Validation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR1 gene
title Validation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR1 gene
title_full Validation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR1 gene
title_fullStr Validation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR1 gene
title_full_unstemmed Validation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR1 gene
title_short Validation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR1 gene
title_sort validation of a commercially available test that enables the quantification of the numbers of cgg trinucleotide repeat expansion in fmr1 gene
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5344422/
https://www.ncbi.nlm.nih.gov/pubmed/28278294
http://dx.doi.org/10.1371/journal.pone.0173279
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