Identification of three polymorphisms in the dystrophin gene
Related Experiment Video
Updated: Oct 17, 2026

05:16
Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides
Published on: May 7, 2020
K Kekou1, A Mavrou, C Sofocleous
1Genetic Unit, 1st Department of Pediatrics, Athens, Greece. kkekou@cc.uoa.gr
Molecular and Cellular Probes
|February 5, 2000
Abstract:
Three polymorphisms were identified in the dystrophin gene using the polymerase chain reaction (PCR) and single strand conformation analysis (SSCA). Two of them (in intron 3) were reported for the first time while the third (in intron 43) is of interest as it is found mostly in patients with a recombination event in the same region.
Related Concept Videos
Satellite Stem Cells and Muscular Dystrophy
Satellite stem cells or myosatellite cells are quiescent stem cells that Alexander Mauro first identified in 1961. These cells are located between the sarcolemma, the plasma membrane of muscle fibers, and the basal lamina, the connective tissue sheath covering it. These mononucleated cells are activated in response to muscle injury, can transform into myoblasts, and may form or repair muscle fibers. Myosatellite cells can provide additional myonuclei for muscle regeneration or return to a...
Single Nucleotide Polymorphisms-SNPs
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...

