Implications of a common polymorphism in intron 12 of the dystrophin gene for deletion detection by multiplex PCR. Gene 1998 Mar 16;209(1-2):211-7
Date
05/16/1998Pubmed ID
9524268DOI
10.1016/s0378-1119(98)00051-1Scopus ID
2-s2.0-0032536840 (requires institutional sign-in at Scopus site) 2 CitationsAbstract
The multiplex polymerase chain reaction (PCR) is a reliable and efficient method for detecting dystrophin gene deletions in about 65% of patients with Duchenne or Becker muscular dystrophy (DMD or BMD). The 9-plex PCR assay, which simultaneously amplifies the muscle-specific promoter and exons 3, 6, 13, 43, 47, 50, 52 and 60, is one of the multiplex PCR assays used routinely to test for DMD and BMD deletions. In this study, we describe a previously unrecognized A to G base variation in intron 12 (nt -110 from exon 13) of the dystrophin gene. This variant, located within the annealing site of the exon 13 forward primer, prevented amplification of exon 13 in the 9-plex PCR assay. Present in 56% (25 of 45) of normal Caucasian alleles and 23% (3 of 13) of normal black American alleles, it is likely encountered frequently during dystrophin deletion analysis by multiplex PCR, and may complicate test result interpretation. Therefore, we suggest two modifications for the multiplex PCR detection of dystrophin gene deletion.
Author List
Chen B, North PE, Parham DMAuthor
Paula E. North MD, PhD Professor in the Pathology department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AllelesBase Sequence
Dystrophin
Exons
Gene Frequency
Genetic Variation
Humans
Introns
Male
Muscle, Skeletal
Muscular Dystrophies
Point Mutation
Polymerase Chain Reaction
Polymorphism, Genetic
Promoter Regions, Genetic
Reference Values
Sequence Deletion
United States
