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A new intragenic polymorphism detected by the single-strand conformation polymorphism (SSCP) assay in the dystrophin gene

✍ Scribed by Sylvie Tuffery; Jacques Demaille; Mireille Claustres

Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
216 KB
Volume
1
Category
Article
ISSN
1059-7794

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✦ Synopsis

We have employed the single strand conformation polymorphism (SSCP) technique to examine a group of patients with Duchenne or Becker muscular dystrophy who do not contain deletions detectable by multiplex PCR or SoutherdcDNA, in an attempt to identify uncommon mutations within the dystrophin gene. In SSCP analysis, a mutated sequence can be detected as a change of mobility in a nondenaturing polyacrylamide gel. During the course of this investigation, we detected and characterized a new polymorphism at the 3' end of intron 16. The G-to-T base change creates a TaqI restriction site which allows for rapid typing of the polymorphism by restriction digestion and electrophoresis of PCR amplified products. Its localization inside the 5' region of the dystrophin gene and its high heterozygosity makes it a useful and easy tool for rapid carrier and prenatal diagnosis.

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