title: The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.
abstract: Detection of large rearrangements in the dystrophin gene in Duchenne and Becker muscular dystrophy is possible in about 65-70% of patients by Southern blotting or multiplex PCR. Subsequently, carrier detection is possible by assessing the intensity of relevant bands, but preferably by a non-quantitative test method. Detection of microlesions in Duchenne and Becker muscular dystrophy is currently under way. Single strand conformational analysis, heteroduplex analysis, and the protein truncation test are mostly used for this purpose. In this paper we review the available methods for detection of large and small mutations in patients and in carriers and propose a systematic approach for genetic analysis and genetic counselling of DMD and BMD families, including prenatal and preimplantation diagnosis.
authors.affiliation: Department of Medical Genetics, University of Groningen, The Netherlands.
authors.forename: A J
authors.initials: AJ
authors.lastname: van Essen
authors.forename: A L
authors.initials: AL
authors.lastname: Kneppers
authors.forename: A H
authors.initials: AH
authors.lastname: van der Hout
authors.forename: H
authors.initials: H
authors.lastname: Scheffer
authors.forename: I B
authors.initials: IB
authors.lastname: Ginjaar
authors.forename: L P
authors.initials: LP
authors.lastname: ten Kate
authors.forename: G J
authors.initials: GJ
authors.lastname: van Ommen
authors.forename: C H
authors.initials: CH
authors.lastname: Buys
authors.forename: E
authors.initials: E
authors.lastname: Bakker
mesh_terms: D004252:DNA Mutational Analysis; D016189:Dystrophin / Q000032:analysis / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling; D005821:Genetic Techniques; D006579:Heterozygote; D006801:Humans; D008297:Male; D009030:Mosaicism; D018482:Muscle, Skeletal / Q000737:chemistry; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D009692:Nucleic Acid Heteroduplexes / Q000032:analysis; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D011247:Pregnancy; D019836:Preimplantation Diagnosis; D011296:Prenatal Diagnosis; D011506:Proteins / Q000032:analysis; D012307:Risk Factors
chemical_list: D016189:Dystrophin; D009692:Nucleic Acid Heteroduplexes; D011506:Proteins