Multiplex ligation-dependent probe amplification analysis on capillary electrophoresis instruments for a rapid gene copy number study

Journal of Biomolecular Techniques

Volumn 19, Issue 4, 2008, Pages 238-243

  Jankowski, Stéphane ^a   Currie Fraser, Erica ^a   Xu, Licen ^a   Coffa, Jordy ^b  

^a MRC Holland ^*  (United States)

^b MRC HOLLAND   (Netherlands)

Author keywords

CNV; Fluorescent in situ hybridization; Gene copy number; MLPA; PCR

Indexed keywords

DNA; MLH1 PROTEIN, HUMAN; MSH2 PROTEIN, HUMAN; NUCLEAR PROTEIN; PROTEIN MSH2; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ARTICLE; BIOTECHNOLOGY; CAPILLARY ELECTROPHORESIS; CHROMOSOME 9; COMPUTER PROGRAM; GENE DOSAGE; GENETICS; HUMAN; INSTRUMENTATION; METHODOLOGY; NUCLEIC ACID AMPLIFICATION; STATISTICS; TUMOR SUPPRESSOR GENE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; BIOTECHNOLOGY; CHROMOSOMES, HUMAN, PAIR 9; DNA; ELECTROPHORESIS, CAPILLARY; GENE DOSAGE; GENES, BRCA1; GENES, BRCA2; HUMANS; MUTS HOMOLOG 2 PROTEIN; NUCLEAR PROTEINS; NUCLEIC ACID AMPLIFICATION TECHNIQUES; SOFTWARE;

EID: 63449134464     PISSN: 15240215     EISSN: 19434731     Source Type: Journal    
DOI: None     Document Type: Article

References (3)

1. Armour JAL, Barton DE, Cockburn DJ, Taylor GR. The detection of large deletions or duplications in genomic DNA. Hum Mutat 2002;20:325-337.
2. Shouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by mulitplex ligation-dependent probe amplification. Nucleic Acids Res 2002;30:e57.
3. Hogervorst FBL, Nederlof PM, Gille JJP, McElgunn CJ, Grippeling M, Pruntel R, et al. Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method. Cancer Res 2003;63:1449-1453.