title: Screening of deletions in the dystrophin gene with the cDNA probes Cf23a, Cf56a, and Cf115.
abstract: We have analysed 38 DMD patients from 34 families and 30 BMD patients from 12 families using the cDNA probes Cf23a and Cf56a, which map near the centre of the dystrophin gene, and Cf115, which is close to the 3' end of this gene. Together, probes Cf23a and Cf56a detected deletions in 50% of the DMD families and 33% of the BMD families. Probe Cf115 detected a deletion in only one DMD patient, which has not been reported before in severe X linked myopathy. Most of the DMD deletions could be detected with Cf56a while all four BMD deletions were detected with Cf23a. The pattern of deletions could not be used to predict the precise clinical course of the disease and no correlation was found between the severity of the disease and the extent of the gene deletion. A higher frequency of deletions was observed in sporadic (73%) compared with familial DMD (28%) and BMD cases (33%). This result, if confirmed in a larger sample, would have important implications for genetic counselling.
authors.affiliation: Departamento de Biologia, Universidade de São Paulo, Brazil.
authors.forename: M R
authors.initials: MR
authors.lastname: Passos-Bueno
authors.forename: D
authors.initials: D
authors.lastname: Rapaport
authors.forename: D
authors.initials: D
authors.lastname: Love
authors.forename: T
authors.initials: T
authors.lastname: Flint
authors.forename: E R
authors.initials: ER
authors.lastname: Bortolini
authors.forename: M
authors.initials: M
authors.lastname: Zatz
authors.forename: K E
authors.initials: KE
authors.lastname: Davies
mesh_terms: D000293:Adolescent; D001938:Brazil; D002872:Chromosome Deletion; D015342:DNA Probes; D016189:Dystrophin; D005260:Female; D005787:Gene Frequency; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree
chemical_list: D015342:DNA Probes; D016189:Dystrophin; D009124:Muscle Proteins