Advertisement

Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

Further evidence for localization of the gene of erythrokeratodermia variabilis

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).

This is a preview of subscription content, log in to check access.

References

  1. Cram DL (1970) Erythrokeratodermia variabilis and variable circinate erythrokeratodermas. Arch Dermatol 101:68–73

  2. Lathrop GM, Lalouel JM (1984) Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36:460–465

  3. Mendes da Costa S (1925) Erythro-et keratodermia variabilis in a mother and a daughter. Acta Derm Venereol (Stockh) 6:225–261

  4. 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

  5. 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

Download references

Author information

Correspondence to J. G. van der Schroeff.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

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

Download citation

Keywords

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