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 Jr. Highsmith

Research output: Contribution to journalArticle

19 Citations (Scopus)

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.

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

Fingerprint

Duchenne Muscular Dystrophy
Haplotypes
DNA
Alleles
Dystrophin
Inborn Genetic Diseases
Pedigree
Isotopes
Genes
Gels
Mutation
Enzymes

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., ... Highsmith, W. E. J. (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

Rapid DNA haplotyping using a multiplex heteroduplex approach : Application to Duchenne muscular dystrophy carrier testing. / Prior, Thomas W.; Wenger, Gail D.; Papp, Audrey C.; Snyder, Pamela J.; Sedra, Mary S.; Bartolo, Claire; Moore, Jay W.; Highsmith, W Edward Jr.

In: Human Mutation, Vol. 5, No. 3, 1995, p. 263-268.

Research output: Contribution to journalArticle

Prior, TW, Wenger, GD, Papp, AC, Snyder, PJ, Sedra, MS, Bartolo, C, Moore, JW & Highsmith, WEJ 1995, 'Rapid DNA haplotyping using a multiplex heteroduplex approach: Application to Duchenne muscular dystrophy carrier testing', Human Mutation, vol. 5, no. 3, pp. 263-268. https://doi.org/10.1002/humu.1380050312
Prior, Thomas W. ; Wenger, Gail D. ; Papp, Audrey C. ; Snyder, Pamela J. ; Sedra, Mary S. ; Bartolo, Claire ; Moore, Jay W. ; Highsmith, W Edward Jr. / Rapid DNA haplotyping using a multiplex heteroduplex approach : Application to Duchenne muscular dystrophy carrier testing. In: Human Mutation. 1995 ; Vol. 5, No. 3. pp. 263-268.
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