Immunogenetics

, Volume 40, Issue 1, pp 37–44

A new frequent allele is the missing link in the structural polymorphism of the human mannan-binding protein

  • Hans O. Madsen
  • P. Garred
  • Joergen A. L. Kurtzhals
  • Lars U. Lamm
  • Lars P. Ryder
  • Steffen Thiel
  • Arne Svejgaard
Original Paper

DOI: 10.1007/BF00163962

Cite this article as:
Madsen, H.O., Garred, P., Kurtzhals, J.A.L. et al. Immunogenetics (1994) 40: 37. doi:10.1007/BF00163962

Abstract

Human mannan-binding protein (MBP) is a serum lectin participating in the innate immune defence. Low MBP concentrations are explained by the dominant action of a point mutation at codon 54 of the MBP gene in Eskimos, partially in Caucasians, but not in Africans. A previously described point mutation at codon 57 was very frequent (0.23) in East Africans, low in Caucasians (0.02), and absent in Eskimos. The African population only conformed to Hardy-Weinberg expectation when assuming the existence of an unknown allele, which was subsequently found as a point mutation at codon 52. This allele appeared with a relatively high frequency (0.05) in both Africans and Caucasians, but was absent in Eskimos. Hardy-Weinberg equilibrium is now seen in the investigated ethnic groups. All cases of MBP deficiency may be explained by these three variants.

Copyright information

© Springer-Verlag 1994

Authors and Affiliations

  • Hans O. Madsen
    • 1
  • P. Garred
    • 1
  • Joergen A. L. Kurtzhals
    • 2
  • Lars U. Lamm
    • 3
  • Lars P. Ryder
    • 1
  • Steffen Thiel
    • 4
  • Arne Svejgaard
    • 1
  1. 1.Tissue Typing Laboratory of the Department of Clinical ImmunologyRigshospitaletCopenhagen NDenmark
  2. 2.Department of Infectious Diseases, Centre for Medical Parasitology, RigshospitaletNational University HospitalCopenhagen NDenmark
  3. 3.Department of Clinical ImmunologySkejby University HospitalAarhus NDenmark
  4. 4.Institute of Medical MicrobiologyAarhus UniversityAarhus CDenmark