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Nicchia, Elena; Greco, Chiara; De Rocco, Daniela; Pecile, Vanna; D'Eustacchio, Angela; Cappelli, Enrico; Corti, Paola; Marra, Nicoletta; Ramenghi, Ugo; Pillon, Marta; Farruggia, Piero; Dufour, Carlo; Pallavicini, Alberto; Torelli, Lucio; Savoia, Anna

Identification of point mutations and large intragenic deletions in Fanconi anemia using next‐generation sequencing technology

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  • Medientyp: E-Artikel
  • Titel: Identification of point mutations and large intragenic deletions in Fanconi anemia using next‐generation sequencing technology
  • Beteiligte: Nicchia, Elena; Greco, Chiara; De Rocco, Daniela; Pecile, Vanna; D'Eustacchio, Angela; Cappelli, Enrico; Corti, Paola; Marra, Nicoletta; Ramenghi, Ugo; Pillon, Marta; Farruggia, Piero; Dufour, Carlo; Pallavicini, Alberto; Torelli, Lucio; Savoia, Anna
  • Erschienen: Wiley, 2015
  • Erschienen in: Molecular Genetics & Genomic Medicine
  • Sprache: Englisch
  • DOI: 10.1002/mgg3.160
  • ISSN: 2324-9269
  • Schlagwörter: Genetics (clinical) ; Genetics ; Molecular Biology
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:title>Abstract</jats:title><jats:p>Fanconi anemia (<jats:styled-content style="fixed-case">FA</jats:styled-content>) is a rare bone marrow failure disorder characterized by clinical and genetic heterogeneity with at least 17 genes involved, which make molecular diagnosis complex and time‐consuming. Since next‐generation sequencing technologies could greatly improve the genetic testing in <jats:styled-content style="fixed-case">FA</jats:styled-content>, we sequenced <jats:styled-content style="fixed-case">DNA</jats:styled-content> samples with known and unknown mutant alleles using the Ion <jats:styled-content style="fixed-case">PGM</jats:styled-content><jats:sup>™</jats:sup> system (<jats:styled-content style="fixed-case">IPGM</jats:styled-content>). The molecular target of 74.2 kb in size covered 96% of the <jats:styled-content style="fixed-case">FA</jats:styled-content>‐coding exons and their flanking regions. Quality control testing revealed high coverage. Comparing the <jats:styled-content style="fixed-case">IPGM</jats:styled-content> and Sanger sequencing output of <jats:italic><jats:styled-content style="fixed-case">FANCA</jats:styled-content></jats:italic>,<jats:italic> <jats:styled-content style="fixed-case">FANCC</jats:styled-content></jats:italic>, and <jats:italic><jats:styled-content style="fixed-case">FANCG</jats:styled-content></jats:italic> we found no false‐positive and a few false‐negative variants, which led to high sensitivity (95.58%) and specificity (100%) at least for these two most frequently mutated genes. The analysis also identified novel mutant alleles, including those in rare complementation groups <jats:italic><jats:styled-content style="fixed-case">FANCF</jats:styled-content></jats:italic> and <jats:italic><jats:styled-content style="fixed-case">FANCL</jats:styled-content></jats:italic>. Moreover, quantitative evaluation allowed us to characterize large intragenic deletions of <jats:italic><jats:styled-content style="fixed-case">FANCA</jats:styled-content></jats:italic> and <jats:italic><jats:styled-content style="fixed-case">FANCD</jats:styled-content>2</jats:italic>, suggesting that <jats:styled-content style="fixed-case">IPGM</jats:styled-content> is suitable for identification of not only point mutations but also copy number variations.</jats:p>
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