Rapid DNA haplotyping using a multiplex heteroduplex approach: Application to duchenne muscular dystrophy carrier testing

Thomas W. Prior, Gail D. Wenger, Audrey C. Papp, Pamela J. Snyder, Mary S. Sedra, Claire Bartolo, Jay W. Moore, W. Edward Highsmith

Research output: Contribution to journalArticle

19 Scopus citations

Abstract

A new strategy has been developed for rapid haplotype analysis based on an initial multiplex amplification of several polymorphic sites, followed by heteroduplex detection. Heteroduplexes formed between two different alleles are detected because they migrate differently than the corresponding homoduplexes in Hydrolink‐MDE gel. This simple, rapid method does not depend on specific sequences such as restriction enzyme sites or CA boxes and does not require the use of isotope. This approach has been tested using commonly occurring polymorphisms spanning the dystrophin gene as a model. We describe the use of the method to assign the carrier status of females in Duchenne muscular dystrophy (DMD) pedigrees. The method may be used for other genetic diseases when mutations are unknown or there are few dinucleotide markers in the gene proximity, and for the identification of haplotype backgrounds of mutant alleles. © 1995 Wiley‐Liss, Inc.

Original languageEnglish (US)
Pages (from-to)263-268
Number of pages6
JournalHuman mutation
Volume5
Issue number3
DOIs
StatePublished - 1995

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Keywords

  • Duchenne muscular dystrophy
  • Haplotype analysis
  • Heteroduplex analysis
  • Intragenic polymorphisms

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Prior, T. W., Wenger, G. D., Papp, A. C., Snyder, P. J., Sedra, M. S., Bartolo, C., Moore, J. W., & Highsmith, W. E. (1995). Rapid DNA haplotyping using a multiplex heteroduplex approach: Application to duchenne muscular dystrophy carrier testing. Human mutation, 5(3), 263-268. https://doi.org/10.1002/humu.1380050312