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Further evidence for localization of the gene of erythrokeratodermia variabilis


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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Correspondence to J. G. van der Schroeff.

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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).

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  • Internal Medicine
  • Metabolic Disease
  • Linkage Analysis
  • Confidence Limit
  • Genetic Linkage