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Am J Hum Genet. 2003 Apr;72(4):931-9. Epub 2003 Mar 11.

Rapid direct sequence analysis of the dystrophin gene.

Author information

1
Department of Neurology, University of Utah, Salt Lake City, UT, USA. kevin.flanigan@genetics.utah.edu

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.

PMID:
12632325
PMCID:
PMC1180355
DOI:
10.1086/374176
[Indexed for MEDLINE]
Free PMC Article

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