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Genetic linkage between erythrokeratodermia variabilis and Rh locus

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Summary

A genetic linkage study was performed in a large Dutch kindred with erythrokeratodermia variabilis (EKV, McKusick no. 13320). The autosomal-dominant trait appeared to segregate rather consistently with the cde (r) gene complex of the Rh system. Only one recombinant was found amongst 27 informative individuals. Lod score calculations gave strong evidence for close linkage between the loci for EKV and Rh (with a maximum lod score of 5.55 at a recombination fraction of 0.044).

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Authors and Affiliations

  1. Department of Dermatology, University Hospital, Rijnsburgerweg 10, 2333 AA, Leiden, The Netherlands

    J. G. van der Schroeff

  2. Central Laboratory of the Netherlands Red Cross Blood Transfusion Service, Amsterdam, The Netherlands

    L. E. Nijenhuis & E. van Loghem

  3. Department of Human Genetics, University of Leiden, The Netherlands

    P. Meera Khan, L. F. Bernini, W. S. Volkers & L. N. Went

  4. Department of Immunohaematology and Blood Bank, University Hospital, Leiden, The Netherlands

    G. M. Th. Schreuder

Authors
  1. J. G. van der Schroeff
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  2. L. E. Nijenhuis
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  3. P. Meera Khan
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  4. L. F. Bernini
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  5. G. M. Th. Schreuder
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  6. E. van Loghem
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  7. W. S. Volkers
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  8. L. N. Went
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van der Schroeff, J.G., Nijenhuis, L.E., Khan, P.M. et al. Genetic linkage between erythrokeratodermia variabilis and Rh locus. Hum Genet 68, 165–168 (1984). https://doi.org/10.1007/BF00279308

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  • DOI: https://doi.org/10.1007/BF00279308

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