Review

Multiplex ligation-dependent probe amplification (MLPA) and prenatal diagnosis

  1. Alecia S. Willis1,*,
  2. Ignatia van den Veyver2,3,
  3. Christine M. Eng1

Article first published online: 30 MAR 2012

DOI: 10.1002/pd.3860

Issue

Prenatal Diagnosis

Prenatal Diagnosis

Special Issue: New Cytogenetic Technologies in Prenatal Diagnosis

Volume 32, Issue 4, pages 315–320, April 2012

Additional Information

How to Cite

Willis, A. S., van den Veyver, I. and Eng, C. M. (2012), Multiplex ligation-dependent probe amplification (MLPA) and prenatal diagnosis. Prenat. Diagn., 32: 315–320. doi: 10.1002/pd.3860

Author Information

  1. 1

    Medical Genetics Laboratories, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA

  2. 2

    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX

  3. 3

    Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX

*Alecia S. Willis. E-mail: awillis@bcm.edu

  1. Funding sources: None

  2. Conflicts of interest: None declared

Publication History

  1. Issue published online: 30 MAR 2012
  2. Article first published online: 30 MAR 2012
  3. Manuscript Accepted: 26 JAN 2012
  4. Manuscript Revised: 24 JAN 2012
  5. Manuscript Received: 7 DEC 2011

SEARCH

SEARCH BY CITATION

ARTICLE TOOLS

View Full Article (HTML) Get PDF (194K)

Keywords:

  • MLPA;
  • DNA;
  • SINGLE GENE DISORDERS;
  • Anueploidy;
  • Molecular technique;
  • deletion duplication analysis

ABSTRACT

Multiplex ligation-dependent probe amplification (MLPA) is a recent technique for the relative quantitation of up to 40 to 45 nucleic acid targets. Due to its relative simplicity, low cost, and availability of laboratory-developed and more than 300 commercially-developed assays, MLPA has become more widely used for both research and diagnostic applications. The MLPA platform is now extensively applied for postnatal diagnosis of genetic disorders and has recently been used for prenatal diagnosis. The published uses of MLPA for prenatal diagnosis include detection of aneuploidies, common microdeletion syndromes and subtelomeric copy-number changes, identification of marker chromosomes, and detection of familial copy-number changes in single genes. This review describes the technique of MLPA in detail and offers considerations for the interpretation of results in the clinical diagnostic setting. © 2012 John Wiley & Sons, Ltd.

View Full Article (HTML) Get PDF (194K)