title: Rapid direct sequence analysis of the dystrophin gene.
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 approximately 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.
authors.affiliation: Department of Neurology, University of Utah, Salt Lake City, UT, USA. kevin.flanigan@genetics.utah.edu
authors.forename: Kevin M
authors.initials: KM
authors.lastname: Flanigan
authors.forename: Andrew
authors.initials: A
authors.lastname: von Niederhausern
authors.forename: Diane M
authors.initials: DM
authors.lastname: Dunn
authors.forename: Jonathan
authors.initials: J
authors.lastname: Alder
authors.forename: Jerry R
authors.initials: JR
authors.lastname: Mendell
authors.forename: Robert B
authors.initials: RB
authors.lastname: Weiss
mesh_terms: D001483:Base Sequence; D002311:Cardiomyopathy, Dilated / Q000235:genetics; D016189:Dystrophin / Q000235:genetics*; D005817:Genetic Counseling; D006801:Humans; D008969:Molecular Sequence Data; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D017422:Sequence Analysis, DNA / Q000379:methods
chemical_list: D016189:Dystrophin