Molecular deletion patterns in families from southern France with Duchenne/Becker muscular dystrophies.
We studied 38 unrelated patients from southern France with Duchenne (DMD) or Becker (BMD) muscular dystrophy for intragenic deletions of the DMD/BMD gene. We used both multiplex amplification of selected exons and cDNA probes. Of the 26 (68%) unrelated individuals found to have deletions, 24 (92%) were detected by multiplex polymerase chain reaction. All these deletions have been delineated with regard to the exon-containing HindIII fragments revealed by cDNA probes, and in two cases, junction fragments of altered size were seen. The correlation between phenotype and type of deletion agreed with the reading frame theory, except for two BMD and two DMD cases.
Claustres
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INSERM U. 249, CRBM/CNRS UPR 8402, Institut de Biologie, Hôpital Gui de Chauliac, Montpellier, France.
Tuffery
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S
Chevron
M P
MP
Jozelon
M P
MP
Martinez
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P
Echenne
B
B
Demaille
J
J
D000293:Adolescent; D015139:Blotting, Southern; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D015342:DNA Probes / Q000235:genetics; D015247:Deoxyribonuclease HindIII / Q000378:metabolism; D016189:Dystrophin / Q000032:analysis / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005602:France; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
D015342:DNA Probes; D016189:Dystrophin; D015247:Deoxyribonuclease HindIII