4 NEW POLYMORPHISMS IN THE HUMAN DYSTROPHIN GENE FROM AN ARGENTINEAN POPULATION

Citation
Se. Baranzini et al., 4 NEW POLYMORPHISMS IN THE HUMAN DYSTROPHIN GENE FROM AN ARGENTINEAN POPULATION, Muscle & nerve, 20(11), 1997, pp. 1451-1453
Citations number
13
Categorie Soggetti
Neurosciences
Journal title
ISSN journal
0148639X
Volume
20
Issue
11
Year of publication
1997
Pages
1451 - 1453
Database
ISI
SICI code
0148-639X(1997)20:11<1451:4NPITH>2.0.ZU;2-Z
Abstract
Duchenne muscular dystrophy and its allelic disorder Becker muscular d ystrophy are among the most common hereditary human pathologies (1:350 0). Two thirds of the genomic alterations responsible for these diseas es involve gross gene rearrangements such as deletions, and less frequ ently duplications. The remaining one third includes point mutations s uch as deletions, insertions, and substitutions. This study describes four nonpreviously reported polymorphisms in the dystrophin gene by us ing the polymerase chain reaction/single-strand conformation polymorph ism technique and subsequent nonisotopic silver staining. (C) 1997 Joh n Wiley & Sons, Inc.