title: Identification of Duchenne muscular dystrophy genomic probe P20 constant Taql fragment corresponding to the EcoRV and Mspl polymorphisms.
abstract: The majority of Duchenne and Becker muscular dystrophy cases are caused by deletions observable in Southern blots with cDNA probes for the gene. When the deletion includes polymorphic probes, they may be used to determine carrier status by deletion segregation analysis: non-inheritance of parental alleles, or heterozygosity. The polymorphic genomic probe P20 is deleted in a large percentage of probands. P20 hybridizes with two constant fragments of 6.7 and 0.8 kb in Taql digests. In a number of probands, only the larger P20 Taql fragment is deleted. This study demonstrates that this fragment corresponds with the polymorphic EcoRV and Mspl fragments of P20. Families in which the upper Taql fragment is deleted may be screened for carrier status using non-inheritance of parental alleles or heterozygosity of P20 in EcoRV or Mspl digests.
authors.affiliation: Australian Neuromuscular Research Institute, Department of Pathology, University of Western Australia, Queen Elizabeth II Medical Centre, Nedlands.
authors.forename: N G
authors.initials: NG
authors.lastname: Laing
authors.forename: A P
authors.initials: AP
authors.lastname: Walker
authors.forename: P A
authors.initials: PA
authors.lastname: Akkari
authors.forename: D C
authors.initials: DC
authors.lastname: Chandler
authors.forename: M G
authors.initials: MG
authors.lastname: Layton
authors.forename: M E
authors.initials: ME
authors.lastname: Mears
authors.forename: T
authors.initials: T
authors.lastname: Yamada
authors.forename: R J
authors.initials: RJ
authors.lastname: Bartlett
authors.forename: M A
authors.initials: MA
authors.lastname: Pericak-Vance
authors.forename: W Y
authors.initials: WY
authors.lastname: Hung
mesh_terms: D015139:Blotting, Southern; D015342:DNA Probes; D019003:Deoxyribonuclease HpaII; D015252:Deoxyribonucleases, Type II Site-Specific; D006580:Genetic Carrier Screening / Q000379:methods*; D006801:Humans; D066298:In Vitro Techniques; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D015342:DNA Probes; D019003:Deoxyribonuclease HpaII; D015252:Deoxyribonucleases, Type II Site-Specific; C027440:GATATC-specific type II deoxyribonucleases; C027046:TCGA-specific type II deoxyribonucleases