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Identification of duchenne muscular dystrophy genomic probe P20 constant Taq1 fragment corresponding to the EcoRV and Msp1 polymorphisms |
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| Authors: | N G Laing A P Walker P A Akkari D C Chandler M G Layton M E Mears T Yamada R J Bartlett M A Pericak-Vance W-Y Hung M C Wapenaar G van Ommen A D Roses B A Kakulas |
| Institution: | 1. Australian Neuromuscular Research Institute, Department of Pathology, University of Western Australia, Queen Elizabeth II Medical Centre, Nedlands, Western Australia 6009, Australia;2. Division of Neurology, P.O. Box 2900, Duke University Medical Center, Durham, NC 27710, U.S.A.;3. Department of Human Genetics, Sylvius Laboratories, State University of Leiden, 2333 Al Leiden, The Netherlands |
| 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 Taq1 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. |
| Keywords: | DMD (Duchenne muscular dystrophy) RFLP (restriction fragment length polymorphism) Carrier detection |