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

Immunogenetics. 1994;40(1):37-44. 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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • African Continental Ancestry Group / genetics
  • Alleles*
  • Asian Continental Ancestry Group / genetics
  • Base Sequence
  • Carrier Proteins / blood
  • Carrier Proteins / genetics*
  • Collectins
  • Denmark / ethnology
  • European Continental Ancestry Group / genetics
  • Gene Frequency*
  • Genotype
  • Greenland / ethnology
  • Humans
  • Inuits / genetics
  • Kenya / ethnology
  • Molecular Sequence Data
  • Polymorphism, Genetic*
  • Sequence Homology, Nucleic Acid

Substances

  • Carrier Proteins
  • Collectins