Summary
Close genetic linkage between erythrokeratodermia variabilis (EKV) and the Rh blood group system has been reported by our group. Here we describe the results of a linkage analysis in another EKV kindred, in which the disease segregated with the CDe genotype. Among 18 informative individuals, 1 recombinant was found. A maximum lod score of 4.21 was calculated at a recombination fraction of 0.03–0.04. Addition of this lod score to the earlier reported results gives a maximum lod score of 9.93 for linkage between EKV and Rh at a recombination fraction of 0.03 (95% confidence limits 0.008–0.11).
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van der Schroeff, J.G., van Leeuwen-Cornelisse, I., van Haeringen, A. et al. Further evidence for localization of the gene of erythrokeratodermia variabilis. Hum Genet 80, 97–98 (1988). https://doi.org/10.1007/BF00451466
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DOI: https://doi.org/10.1007/BF00451466