Literature DB >> 19137113

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

Stéphane Jankowski1, Erica Currie-Fraser, Licen Xu, Jordy Coffa.   

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.

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Year:  2008        PMID： 19137113      PMCID： PMC2567135     

Source DB:  PubMed          Journal:  J Biomol Tech        ISSN： 1524-0215


  3 in total

1.  Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method.

Authors:  Frans B L Hogervorst; Petra M Nederlof; Johan J P Gille; Cathal J McElgunn; Maartje Grippeling; Roelof Pruntel; Rein Regnerus; Tibor van Welsem; Resie van Spaendonk; Fred H Menko; Irma Kluijt; Charlotte Dommering; Senno Verhoef; Jan P Schouten; Laura J van't Veer; Gerard Pals
Journal:  Cancer Res       Date:  2003-04-01       Impact factor: 12.701

Review 2.  The detection of large deletions or duplications in genomic DNA.

Authors:  J A L Armour; D E Barton; D J Cockburn; G R Taylor
Journal:  Hum Mutat       Date:  2002-11       Impact factor: 4.878

3.  Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification.

Authors:  Jan P Schouten; Cathal J McElgunn; Raymond Waaijer; Danny Zwijnenburg; Filip Diepvens; Gerard Pals
Journal:  Nucleic Acids Res       Date:  2002-06-15       Impact factor: 16.971
  3 in total
  5 in total

1.  Genomic imbalance in subjects with idiopathic intellectual disability detected by multiplex ligation-dependent probe amplification.

Authors:  Shruthi Mohan; Vettriselvi Venkatesan; Solomon Fd Paul; Teena Koshy; Venkatachalam Perumal
Journal:  J Genet       Date:  2016-06       Impact factor: 1.166

2.  Genetic Analysis of Forty MLPA-Negative Duchenne Muscular Dystrophy Patients by Whole-Exome Sequencing.

Authors:  Gholam Reza Zamani; Mohammad Farid Mohammadi; Ali Reza Tavasoli; Mahmoud Reza Ashrafi; Sareh Hosseinpour; Homa Ghabeli; Elham Pourbakhtyaran; Roya Haghighi; Seyyed Mohammad Mahdi Hosseiny; Pouria Mohammadi; Morteza Heidari
Journal:  J Mol Neurosci       Date:  2022-02-26       Impact factor: 3.444

3.  Copy number variation in the complement factor H-related genes and age-related macular degeneration.

Authors:  Katharina E Kubista; Nirubol Tosakulwong; Yanhong Wu; Euijung Ryu; Jaime L Roeder; Laura A Hecker; Keith H Baratz; William L Brown; Albert O Edwards
Journal:  Mol Vis       Date:  2011-08-06       Impact factor: 2.367

Review 4.  Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases.

Authors:  Liborio Stuppia; Ivana Antonucci; Giandomenico Palka; Valentina Gatta
Journal:  Int J Mol Sci       Date:  2012-03-08       Impact factor: 6.208

5.  Current Challenges for HER2 Testing in Diagnostic Pathology: State of the Art and Controversial Issues.

Authors:  Anna Sapino; Margherita Goia; Daniele Recupero; Caterina Marchiò
Journal:  Front Oncol       Date:  2013-05-21       Impact factor: 6.244
  5 in total

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