Rapid direct sequence analysis of the dystrophin gene

Kevin M. Flanigan, Andrew Von Niederhausern, Diane M. Dunn, Jonathan Alder, Jerry R. Mendell, Robert B. Weiss

Research output: Contribution to journalArticle

Abstract

Mutations in the dystrophin gene result in both Duchenne and Becker muscular dystrophy (DMD and BMD), as well as X-linked dilated cardiomyopathy. Mutational analysis is complicated by the large size of the gene, which consists of 79 exons and 8 promoters spread over 2.2 million base pairs of genomic DNA. Deletions of one or more exons account for 55%-65% of cases of DMD and BMD, and a multiplex polymerase chain reaction method - currently the most widely available method of mutational analysis - detects ∼98% of deletions. Detection of point mutations and small subexonic rearrangements has remained challenging. We report the development of a method that allows direct sequence analysis of the dystrophin gene in a rapid, accurate, and economical fashion. This same method, termed "SCAIP" (single condition amplification/internal primer) sequencing, is applicable to other genes and should allow the development of widely available assays for any number of large, multiexon genes.

Original languageEnglish (US)
Pages (from-to)931-939
Number of pages9
JournalAmerican Journal of Human Genetics
Volume72
Issue number4
DOIs
StatePublished - Apr 1 2003
Externally publishedYes

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Dystrophin
Sequence Analysis
Genes
Exons
Duchenne Muscular Dystrophy
Multiplex Polymerase Chain Reaction
Point Mutation
Base Pairing
Mutation
DNA

ASJC Scopus subject areas

  • Genetics

Cite this

Flanigan, K. M., Von Niederhausern, A., Dunn, D. M., Alder, J., Mendell, J. R., & Weiss, R. B. (2003). Rapid direct sequence analysis of the dystrophin gene. American Journal of Human Genetics, 72(4), 931-939. https://doi.org/10.1086/374176

Rapid direct sequence analysis of the dystrophin gene. / Flanigan, Kevin M.; Von Niederhausern, Andrew; Dunn, Diane M.; Alder, Jonathan; Mendell, Jerry R.; Weiss, Robert B.

In: American Journal of Human Genetics, Vol. 72, No. 4, 01.04.2003, p. 931-939.

Research output: Contribution to journalArticle

Flanigan, KM, Von Niederhausern, A, Dunn, DM, Alder, J, Mendell, JR & Weiss, RB 2003, 'Rapid direct sequence analysis of the dystrophin gene', American Journal of Human Genetics, vol. 72, no. 4, pp. 931-939. https://doi.org/10.1086/374176
Flanigan KM, Von Niederhausern A, Dunn DM, Alder J, Mendell JR, Weiss RB. Rapid direct sequence analysis of the dystrophin gene. American Journal of Human Genetics. 2003 Apr 1;72(4):931-939. https://doi.org/10.1086/374176
Flanigan, Kevin M. ; Von Niederhausern, Andrew ; Dunn, Diane M. ; Alder, Jonathan ; Mendell, Jerry R. ; Weiss, Robert B. / Rapid direct sequence analysis of the dystrophin gene. In: American Journal of Human Genetics. 2003 ; Vol. 72, No. 4. pp. 931-939.
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