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Four new polymorphisms in the human dystrophin gene from an Argentinian population
Author(s) -
Baranzini Sergio Enrique,
Lenk Uwe,
Szijan Irena,
Speer Astrid
Publication year - 1997
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/(sici)1097-4598(199711)20:11<1451::aid-mus14>3.0.co;2-4
Subject(s) - genetics , dystrophin , muscular dystrophy , duchenne muscular dystrophy , polymerase chain reaction , biology , point mutation , gene , allele , polymorphism (computer science) , population , microbiology and biotechnology , silver stain , mutation , medicine , environmental health
Duchenne muscular dystrophy and its allelic disorder Becker muscular dystrophy are among the most common hereditary human pathologies (1:3500). Two thirds of the genomic alterations responsible for these diseases involve gross gene rearrangements such as deletions, and less frequently duplications. The remaining one third includes point mutations such as deletions, insertions, and substitutions. This study describes four nonpreviously reported polymorphisms in the dystrophin gene by using the polymerase chain reaction/single‐strand conformation polymorphism technique and subsequent nonisotopic silver staining. © 1997 John Wiley & Sons, Inc. Muscle Nerve 20: 1451–1453, 1997