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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Cram DL (1970) Erythrokeratodermia variabilis and variable circinate erythrokeratodermas. Arch Dermatol 101:68–73
Lathrop GM, Lalouel JM (1984) Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36:460–465
Mendes da Costa S (1925) Erythro-et keratodermia variabilis in a mother and a daughter. Acta Derm Venereol (Stockh) 6:225–261
Van der Schroeff JG, Suurmond D (1981) Treatment of erythrokeratodermia variabilis with oral retinoid (RO 10-9359). In: Orfanos CE, Braun-Falco O, Farber EM, Grupper Ch, Polano MK, Schuppli R (eds) Retinoids, advances in basic research and therapy. Springer, Berlin Heidelberg New York, pp 295–301
Van der Schroeff JG, Nijenhuis LE, Meera Khan P, Bernini LF, Schreuder GMT, Loghem E van, Volkers WS, Went LN (1984) Genetic linkage between erythrokeratodermia variabilis and Rh locus. Hum Genet 68:165–168
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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
- Internal Medicine
- Metabolic Disease
- Linkage Analysis
- Confidence Limit
- Genetic Linkage