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Wapenaar MC, Kievits T, Hart KA, et al. A deletion hot spot in the Duchenne muscular dystrophy gene. Genomics. 1988;2(2):101-8doi: 10.1016/0888-7543(88)90090-0.
Wapenaar, M. C., Kievits, T., Hart, K. A., Abbs, S., Blonden, L. A., den Dunnen, J. T., Grootscholten, P. M., Bakker, E., Verellen-Dumoulin, C., & Bobrow, M. (1988). A deletion hot spot in the Duchenne muscular dystrophy gene. Genomics, 2(2), 101-8. https://doi.org/10.1016/0888-7543(88)90090-0
Wapenaar, M C, et al. "A deletion hot spot in the Duchenne muscular dystrophy gene." Genomics vol. 2,2 (1988): 101-8. doi: https://doi.org/10.1016/0888-7543(88)90090-0
Wapenaar MC, Kievits T, Hart KA, Abbs S, Blonden LA, den Dunnen JT, Grootscholten PM, Bakker E, Verellen-Dumoulin C, Bobrow M. A deletion hot spot in the Duchenne muscular dystrophy gene. Genomics. 1988 Feb;2(2):101-8. doi: 10.1016/0888-7543(88)90090-0. PMID: 2900805.
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Genomics. 1988 Feb;2(2):101-8. doi: 10.1016/0888-7543(88)90090-0.

A deletion hot spot in the Duchenne muscular dystrophy gene.

Genomics

M C Wapenaar, T Kievits, K A Hart, S Abbs, L A Blonden, J T den Dunnen, P M Grootscholten, E Bakker, C Verellen-Dumoulin, M Bobrow

Affiliations

  1. Department of Human Genetics, Sylvius Laboratories, State University of Leiden, The Netherlands.

PMID: 2900805 DOI: 10.1016/0888-7543(88)90090-0

Abstract

We have made a detailed study of a deletion hot spot in the distal half of the Duchenne muscular dystrophy (DMD) gene, using intragenic probe P20 (DXS269), isolated by a hybrid cell-mediated cloning procedure. P20 detects 16% deletions in patients suffering from either DMD or Becker muscular dystrophy (BMD), in sharp contrast to the adjacent intragenic markers JBir (7%) and J66 (less than 1%), mapping respectively 200-320 kb proximal and 380-500 kb distal to P20. Of the P20 deletions, 30% start within a region of 25-40 kb, the majority extending distally. P20 was confirmed to map internal to a distal intron of the DMD gene. This region was recently shown by both cDNA analysis (M. Koenig et al., 1987; Cell 50: 509-517), and field inversion electrophoresis studies (J.T. Den Dunnen et al., 1987, Nature (London) 329: 640-642) to be specifically prone to deletions. In addition, P20 detects MspI and EcoRV RFLPs, informative in 48% of the carrier females. Together, these properties make P20 useful for carrier detection, prenatal diagnosis, and the study of deletion induction in both DMD and BMD.

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