Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies.
Human DMD cDNA probes have been used to delineate possible deletions in 160 affected males. Approximately 56% of these individuals had detectable deletions, 29% of which mapped to a region centered around 500 kb from the 5' end of the gene whereas 69% mapped to a region located centrally 1,200 kb from the 5' end. We have observed no correlation between the extent of a deletion, its location, and clinical severity of the associated disease. For some cases with deletions in the two high-frequency deletion regions, the predicted effect upon translational reading frame of the resultant dystrophin mRNA did not correlate with the associated disease phenotype.
Baumbach
L L
LL
Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030.
Chamberlain
J S
JS
Ward
P A
PA
Farwell
N J
NJ
Caskey
C T
CT
D000328:Adult; D015139:Blotting, Southern; D002872:Chromosome Deletion; D004247:DNA / Q000097:blood / Q000235:genetics / Q000302:isolation & purification; D015342:DNA Probes; D005091:Exons; D005260:Female; D006801:Humans; D007438:Introns; D008297:Male; D009136:Muscular Dystrophies / Q000145:classification / Q000235:genetics* / Q000503:physiopathology; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012016:Reference Values
D015342:DNA Probes; D004247:DNA