Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation test

Human Genetics
S TufferyM Claustres

Abstract

Data from 6 years of experience in molecular diagnosis of Duchenne (DMD) and Becker (BMD) muscular dystrophy in Southern France are reported. DMD and BMD patients have been extensively analyzed for deletions and for point mutations in the dystrophin gene. By scanning the whole coding sequence as reverse-transcribed from lymphocytes or muscular RNA by the protein truncation test, we have reached a minimum of an 86% detection rate for point mutations responsible for DMD; these mutations consist of nonsense, frameshifting, and splicing mutations. Four of 12 small alterations identified in our sample are novel and described in this study. We also present an improved protocol for the automated detection of fluorescently labeled duplex polymerase chain reactions of six known intragenic microsatellites (Dys II, TG 15, STRs 44, 45, 49, and 50). Accurate sizing of the alleles at each locus was performed, and we elucidated the sequence of several repeat units. Allele frequencies at each of the six microsatellite loci and at one restriction fragment length polymorphism site (intron 16/TaqI) were defined in a sample of normal, DMD, and BMD X chromosomes from Southern France. The determination of the grandparental origin of either deletions...Continue Reading

Citations

Aug 17, 1999·The Journal of Clinical Investigation·E R Barton-DavisH L Sweeney
Jan 9, 2016·The Journal of Molecular Diagnostics : JMD·Man Jin KimMoon-Woo Seong
Jun 2, 2012·Expert Opinion on Biological Therapy·Toshifumi YokotaHanna Kolski
May 14, 2019·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Swati TomarPoh San Lai

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