Rapid direct sequence analysis of the dystrophin gene

Am J Hum Genet. 2003 Apr;72(4):931-9. doi: 10.1086/374176. Epub 2003 Mar 11.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Base Sequence
  • Cardiomyopathy, Dilated / genetics
  • Dystrophin / genetics*
  • Genetic Counseling
  • Humans
  • Molecular Sequence Data
  • Muscular Dystrophy, Duchenne / genetics*
  • Polymerase Chain Reaction / methods
  • Sequence Analysis, DNA / methods


  • Dystrophin

Associated data

  • OMIM/300376
  • OMIM/300377
  • OMIM/310200
  • RefSeq/NM_000109