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Nucleic Acids Research, 1985, Vol. 13, No. 10 3419-3426
© 1985


Articles

Human X chromosome markers and Duchenne muscular dystrophy

K.E. Davies1, A. Speer2, F. Herrmann3, A.W.J. Spiegler3, S. McGlade1, M.H. Hofker4, P. Briand5, R. Hanke2, M. Schwartz6, V. Steinbicker7, R. Szibor7, H. Korner8, D. Sommer8, P.L. Pearson4 and Ch. Coutelle2

1Nuffield Department of Clinical Medicine, John Radcliffe Hospital Oxford OX3 9DU, UK 2Centrel Institute of Molecular Biology, Department of Cell Differentiation, Academy of Science of GDR Berlin 3Medical Academy Erfurt, Department of Medical Genetics Erfurt, GDR 4Department of Human Genetics, State University of Leiden 2333 AL Leiden, The Netherlands 5Laboratoire de Biochimie Genetique 149 rue de Sevres, 75743 Paris, Cedex 15, France 6Section of Clinical Genetics, Department of Paediatrics Rigshospitalet, Blegdamsvej 9, 210 Copenhagen, Denmark 7Medical Academy Magdeburg, Paediatric Clinic, Department of Human Genetics Magdeburg 8University Clinic for Obstetrics and Gynaccology, Department of Human Genetics, Charite-Hospital, Humboldt University Berlin, GDR

Received April 16, 1985. Accepted April 29, 1985.

Two DNA markers. a random DNA fragment 754 and the cDNA sequence encoding the gene for ornithine transcarbamylase (OTC) have been studied in kindreds segregating for Duchenne muscular dystrophy. 754 and OTC are located close physically to the mutation in the region Xp21 below the breakpoints in two Duchenne females. The genetic distance was found to be ~10cM between 754 and DMD (two crossovers in 26 meioses) and to be ~10cM between OTC and DMD (two crossovers in 26 meioses). Physical data suggest the order DMD-754-OTC. The frequency of recombination compared to physical distance between these markers and DMD suggests that there may be a hot spot of recombination. The relevance of these observations for the isolation of the DMD mutation and clinical use of these probes is discussed.


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