TY - JOUR
T1 - Novel mutations of dystrophin gene in DMD patients detected by rapid scanning in biplex exons DHPLC analysis
AU - Muscarella, Lucia Anna
AU - Piemontese, Maria Rosaria
AU - Barbano, Raffaela
AU - Fazio, Antonina
AU - Guarnieri, Vito
AU - Quattrone, Alessandro
AU - Zelante, Leopoldo
PY - 2007/6
Y1 - 2007/6
N2 - Mutations in the dystrophin gene result in both Duchenne and Becher muscular dystrophies (DMD and BMD). Approximately 65% of all mutations causing DMD are deletions (60%) or duplications (5%) of large segments of this gene, spanning one exon or more. Due to the large size of the dystrophin gene (79 exons), finding point mutations has been prohibitively expensive and laborious. Recent studies confirm the utility of pre-screening methods, as denaturing high-performance liquid chromatography (DHPLC) analysis in the identification of point mutations in the dystrophin gene, with an increment of mutation detection rate from 65% to more than 92%. Here we suggest an alternative and convenient method of DHPLC analysis in order to find mutations in a more rapid and less expensive way by introducing the analysis of 16 couples of dystrophin amplicons, in biplex exons DHPLC runs. Using this new protocol of biplex exons DHPLC screening, new mutations were identified in four male patients affected by DMD who had tested negative for large DNA rearrangements.
AB - Mutations in the dystrophin gene result in both Duchenne and Becher muscular dystrophies (DMD and BMD). Approximately 65% of all mutations causing DMD are deletions (60%) or duplications (5%) of large segments of this gene, spanning one exon or more. Due to the large size of the dystrophin gene (79 exons), finding point mutations has been prohibitively expensive and laborious. Recent studies confirm the utility of pre-screening methods, as denaturing high-performance liquid chromatography (DHPLC) analysis in the identification of point mutations in the dystrophin gene, with an increment of mutation detection rate from 65% to more than 92%. Here we suggest an alternative and convenient method of DHPLC analysis in order to find mutations in a more rapid and less expensive way by introducing the analysis of 16 couples of dystrophin amplicons, in biplex exons DHPLC runs. Using this new protocol of biplex exons DHPLC screening, new mutations were identified in four male patients affected by DMD who had tested negative for large DNA rearrangements.
KW - DHPLC analysis
KW - DMD
KW - Dystrophin
KW - Mutation screening
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U2 - 10.1016/j.bioeng.2006.10.003
DO - 10.1016/j.bioeng.2006.10.003
M3 - Article
C2 - 17145200
AN - SCOPUS:34248513265
VL - 24
SP - 231
EP - 236
JO - Biomolecular Engineering
JF - Biomolecular Engineering
SN - 1389-0344
IS - 2
ER -