TY - JOUR
T1 - Rapid direct sequence analysis of the dystrophin gene
AU - Flanigan, Kevin M.
AU - Von Niederhausern, Andrew
AU - Dunn, Diane M.
AU - Alder, Jonathan
AU - Mendell, Jerry R.
AU - Weiss, Robert B.
N1 - Funding Information:
This study was supported by Parent Project Muscular Dystrophy, the Muscular Dystrophy Association, the Primary Children’s Research Foundation, and National Institutes of Health grants R01 NS43264-01 (to K.F.) and U01 HG02138-04 (to R.W.). The authors wish to acknowledge M. Bromberg, B. Wong, and T. Mozaffar, for referral of patients; M. Howard, for helpful discussions; R. Kuhn, G. O’Neill, A. Aoyagi, R. Mao, K. Ward, J. Bernaducci, and C. Schilling, for assistance; and J. den Dunnen and S. White of Leiden University, for duplication analysis.
PY - 2003/4/1
Y1 - 2003/4/1
N2 - 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.
AB - 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.
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U2 - 10.1086/374176
DO - 10.1086/374176
M3 - Article
C2 - 12632325
AN - SCOPUS:0037384644
SN - 0002-9297
VL - 72
SP - 931
EP - 939
JO - American journal of human genetics
JF - American journal of human genetics
IS - 4
ER -