Deletion detection in the dystrophin gene by multiplex gap ligase chain reaction and immunochromatographic strip technology

Cynthia Jou, James Rhoads, Stanley Bouma, ShanFun Ching, Joanell Hoijer, Pamella Schroeder-Poliak, Peter Zaun, Susan Smith, Carolyn (Sue) Richards, C. Thomas Caskey, Julian Gordon

Research output: Contribution to journalArticle

5 Scopus citations


The purpose of this study is to demonstrate the value of a multiplex amplification and readout system. The validation was done using as a model system the detection of deletions in nine possible dystrophin exons: 4, 8, 12, 17, 19, 44, 45, 48, and 51. The amplification system was gap ligase chain reaction, adapted to amplify selected regions of multiple exons simultaneously. The amplified products were read out with an immunochromatographic methodology, adapted from that used in the Abbott product line commercialized under the name Test Pack Plus. In each amplification, the β-globin gene was incorporated and served as a procedural control. The complete process takes

Original languageEnglish (US)
Pages (from-to)86-93
Number of pages8
JournalHuman Mutation
Issue number1
Publication statusPublished - 1995
Externally publishedYes



  • Duchenne muscular dystrophy
  • Latex
  • Nitrocellulose
  • Polymerase chain reaction

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this