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Report of new haplotype for ABCC2 gene: rs17222723 and rs8187718 in cis.
Pratt, Victoria M; Beyer, Brittany N; Koller, Daniel L; Skaar, Todd C; Flockhart, David A; Levy, Kenneth D; Vance, Gail H.
Afiliación
  • Pratt VM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana. Electronic address: vpratt@iu.edu.
  • Beyer BN; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
  • Koller DL; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
  • Skaar TC; Department of Clinical Pharmacology, Indiana University School of Medicine, Indianapolis, Indiana.
  • Flockhart DA; Department of Clinical Pharmacology, Indiana University School of Medicine, Indianapolis, Indiana.
  • Levy KD; Department of Clinical Pharmacology, Indiana University School of Medicine, Indianapolis, Indiana.
  • Vance GH; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
J Mol Diagn ; 17(2): 201-5, 2015 Mar.
Article en En | MEDLINE | ID: mdl-25554586
The ATP-binding cassette, subfamily C [CFTR/MRP], member 2 (ABCC2) gene is a member of the ATP-binding cassette transporters and is involved in the transport of molecules across cellular membranes. Substrates transported by ABCC2 include antiepileptics, statins, tenofovir, cisplatin, irinotecan, and carbamazepine. Because of the pharmacogenomics implications, we developed a clinical laboratory-developed assay to test for seven variants in the ABCC2 gene: c.3563T>A (p.V1188E, rs17222723), c.1249G>A (p.V417I, rs2273697), c.3972C>T (p.I1324I, rs3740066), c.2302C>T (p.R768W, rs56199535), c.2366C>T (p.S789F, rs56220353), c.-24C>T (5'UTR, rs717620), and c.4544G>A (p.C1515Y, rs8187710). During the validation process, we noted several DNA samples, obtained from the Coriell Cell Repository, that contained both c.3563T>A, c.4544G>A, and a third variant, suggesting that c.3563T>A and c.4544G>A are in cis on the chromosome in some individuals. We obtained DNA samples from a trio (father, mother, and child), tested their ABCC2 variants, and confirmed that c.3563T>A and c.4544G>A were in cis on the same chromosome. Here, we report a new haplotype in ABCC2.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Haplotipos / Proteínas Asociadas a Resistencia a Múltiples Medicamentos Límite: Female / Humans Idioma: En Revista: J Mol Diagn Asunto de la revista: BIOLOGIA MOLECULAR Año: 2015 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Haplotipos / Proteínas Asociadas a Resistencia a Múltiples Medicamentos Límite: Female / Humans Idioma: En Revista: J Mol Diagn Asunto de la revista: BIOLOGIA MOLECULAR Año: 2015 Tipo del documento: Article Pais de publicación: Estados Unidos