Literature DB >> 23824847

Denaturing high-performance liquid chromatography for mutation detection and genotyping.

Donna Lee Fackenthal1, Pei Xian Chen, Ted Howe, Soma Das.   

Abstract

Denaturing high-performance liquid chromatography (DHPLC) is an accurate and efficient screening technique used for detecting DNA sequence changes by heteroduplex analysis. It can also be used for genotyping of single nucleotide polymorphisms (SNPs). The high sensitivity of DHPLC has made this technique one of the most reliable approaches to mutation analysis and, therefore, used in various areas of genetics, both in the research and clinical arena. This chapter describes the methods used for mutation detection analysis and the genotyping of SNPs by DHPLC on the WAVE™ system from Transgenomic Inc. ("WAVE" and "DNASep" are registered trademarks, and "Navigator" is a trademark, of Transgenomic, used with permission. All other trademarks are property of the respective owners).

Mesh:

Year:  2013        PMID: 23824847     DOI: 10.1007/978-1-62703-435-7_2

Source DB:  PubMed          Journal:  Methods Mol Biol        ISSN: 1064-3745


  3 in total

1.  Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations.

Authors:  Lucia Dora Notarangelo; Gianfranco Savoldi; Sara Cavagnini; Veronica Bennato; Sabrina Vasile; Alba Pilotta; Alessandro Plebani; Fulvio Porta
Journal:  Ital J Pediatr       Date:  2014-11-14       Impact factor: 2.638

2.  Contemporary genetic testing in inherited cardiac disease: tools, ethical issues, and clinical applications.

Authors:  Francesca Girolami; Giulia Frisso; Matteo Benelli; Lia Crotti; Maria Iascone; Ruggiero Mango; Cristina Mazzaccara; Kalliope Pilichou; Eloisa Arbustini; Benedetta Tomberli; Giuseppe Limongelli; Cristina Basso; Iacopo Olivotto
Journal:  J Cardiovasc Med (Hagerstown)       Date:  2018-01       Impact factor: 2.160

3.  Are polymorphisms of the immunoregulatory factor CD40LG implicated in acute transfusion reactions?

Authors:  Chaker Aloui; Caroline Sut; Antoine Prigent; Jocelyne Fagan; Fabrice Cognasse; Viviana Granados-Herbepin; Renaud Touraine; Bruno Pozzetto; Mahjoub Aouni; Chedlia Fendri; Mohsen Hassine; Tahar Chakroun; Saloua Jemni-Yacoub; Olivier Garraud; Sandrine Laradi
Journal:  Sci Rep       Date:  2014-11-28       Impact factor: 4.379

  3 in total

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