Article
A single polymerase chain reaction-based protocol for detecting normal and expanded alleles in myotonic dystrophy.
Diagnostic molecular pathology : the American journal of surgical pathology, part B - 1 Jun 1998
Gennarelli M, Pavoni M, Amicucci P, Novelli G, Dallapiccola B
Abstract excerpt
The myotonic dystrophy (DM) expansion varies from 50 to 4000 CTG repeats in the 3' untranslated region of the DMPK gene. Direct analysis by Southern blot, after restriction enzyme digestion of genomic DNA, is the method of choice for studying the DM mutation. A long polymerase chain reaction (PCR...
Topics
- Alleles
- DNA
- DNA Primers
- Genetic Carrier Screening
- Humans
- Myotonic Dystrophy
- Polymerase Chain Reaction
- Sensitivity and Specificity
- Trinucleotide Repeat Expansion
- Trinucleotide Repeats