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, Sue Richards, C. Thomas Caskey, Julian Gordon

Research output: Contribution to journalArticle

5 Scopus citations

Abstract

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 <3 hr from DNA sample to result. The procedure is therefore rapid and simple, as well as being potentially very cost effective. The combination of these two technologies is shown to be a useful tooi for the determination of deletions in the nine exons of the dystrophin gene. The results of a 100‐patient sample study showed concordance with cDNA and PCR in current use. Equivalent performance at two sites was shown. © 1995 Wiley‐Liss, Inc.

Original languageEnglish (US)
Pages (from-to)86-93
Number of pages8
JournalHuman mutation
Volume5
Issue number1
DOIs
StatePublished - 1995

Keywords

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

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Jou, C., Rhoads, J., Bouma, S., Ching, S., Hoijer, J., Schroeder‐Poliak, P., Zaun, P., Smith, S., Richards, S., Caskey, C. T., & Gordon, J. (1995). Deletion detection in the dystrophin gene by multiplex gap ligase chain reaction and immunochromatographic strip technology. Human mutation, 5(1), 86-93. https://doi.org/10.1002/humu.1380050112