title: Deletion screening and prenatal diagnosis of Duchenne muscular dystrophy using cDNA probes Cf 23a and Cf 56a.
abstract: We have screened patients of 14 families at risk for Duchenne muscular dystrophy (DMD) from the northern part of the German Democratic Republic using the cDNA clones Cf 23a and CF 56a. Of the 14 unrelated DMD families, 7 (50%) showed different deletions with these cDNA probes. A prenatal diagnosis by chorionic villi sampling was performed in a DMD family with patients showing a deletion of the 5.4 kb Pst I band detected by the cDNA probe Cf 56a. This band corresponds to a 10 kb exon region of the cDNA probe 8 of Koenig et al. The patient's mother was informative only for the flanking marker 99.6. The male fetus showed the same haplotype and the same deletion as the two patients.
authors.affiliation: Institut für medizinische Genetik, Ernst-Moritz-Arndt-Universität, Greifswald, German Democratic Republic.
authors.forename: F H
authors.initials: FH
authors.lastname: Herrmann
authors.forename: K
authors.initials: K
authors.lastname: Wulff
authors.forename: M
authors.initials: M
authors.lastname: Schütz
authors.forename: M
authors.initials: M
authors.lastname: Wehnert
mesh_terms: D002872:Chromosome Deletion; D015342:DNA Probes; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014960:X Chromosome
chemical_list: D015342:DNA Probes; D005819:Genetic Markers