title: Multiplex ligation-dependent probe amplification analysis on capillary electrophoresis instruments for a rapid gene copy number study.
abstract: Annotated DNA samples that had been previously analyzed were tested using multiplex ligation-dependent probe amplification (MLPA) assays containing probes targeting BRCA1, BRCA2, and MMR (MLH1/MSH2 genes) and the 9p21 chromosomal region. MLPA polymerase chain reaction products were separated on a capillary electrophoresis platform, and the data were analyzed using GeneMapper v4.0 software (Applied Biosystems, Foster City, CA). After signal normalization, loci regions that had undergone deletions or duplications were identified using the GeneMapper Report Manager and verified using the DyeScale functionality. The results highlight an easy-to-use, optimal sample preparation and analysis workflow that can be used for both small- and large-scale studies.
authors.affiliation: Applied Biosystems, Foster City, CA 94404, USA. stephane.jankowski@appliedbiosystems.com
authors.forename: Stéphane
authors.initials: S
authors.lastname: Jankowski
authors.forename: Erica
authors.initials: E
authors.lastname: Currie-Fraser
authors.forename: Licen
authors.initials: L
authors.lastname: Xu
authors.forename: Jordy
authors.initials: J
authors.lastname: Coffa
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D001709:Biotechnology; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D004247:DNA / Q000235:genetics; D019075:Electrophoresis, Capillary / Q000295:instrumentation / Q000379:methods* / Q000706:statistics & numerical data; D018628:Gene Dosage; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D006801:Humans; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D021141:Nucleic Acid Amplification Techniques / Q000295:instrumentation / Q000379:methods* / Q000706:statistics & numerical data; D012984:Software
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C501486:MLH1 protein, human; D009687:Nuclear Proteins; D004247:DNA; C497172:MSH2 protein, human; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein