Unit

UNIT 9.3 Multiplex PCR for Identifying DMD Gene Deletions

  1. Johan T. den Dunnen1,
  2. Alan H. Beggs2

Published Online: 1 MAY 2006

DOI: 10.1002/0471142905.hg0903s49

Current Protocols in Human Genetics

Current Protocols in Human Genetics

How to Cite

den Dunnen, J. T. and Beggs, A. H. 2006. Multiplex PCR for Identifying DMD Gene Deletions. Current Protocols in Human Genetics. 49:9.3:9.3.1–9.3.22.

Author Information

  1. 1

    Leiden University Medical Center, Leiden, The Netherlands

  2. 2

    Children's Hospital and Harvard Medical School, Boston, Massachusetts

Publication History

  1. Published Online: 1 MAY 2006
  2. Published Print: APR 2006

Abstract

The identification of dystrophin as the defective protein in patients with Duchenne and Becker muscular dystrophies (DMD and BMD) has allowed the development of sensitive and specific tests to establish a diagnosis and to aid in genetic counseling and prenatal diagnosis. The Basic Protocol describes three complementary multiplex PCR assays that detect 26 dystrophin gene exons. The multiplex nature of these assays allows the detection of up to ten different exons in a single reaction. At least one of these exons is missing in >95% of deletions. The Support Protocol describes preparation and storage of stock PCR reaction mixes with primers for each of the three diagnostic assays. The Alternate Protocol is a modification of the Basic Protocol for radioactive detection of duplications in males and deletions in carrier females.

Keywords:

  • Duchenne muscular dystrophy;
  • Becker muscular dystrophy;
  • DMD gene;
  • mutations;
  • multiplex PCR