A Japanese family with two sisters apparently homozygous for Mk

Vox Sang. 1988;54(2):107-11. doi: 10.1111/j.1423-0410.1988.tb01626.x.

Abstract

Two Japanese sisters with consanguineous parents have M-N- En(a-) Wr(a-b-) S-s-U- red cells and are therefore apparently homozygous for Mk; the third reported family with members of this genotype. The serum of the proposita (ORCMK) contained anti-EnaTS, anti-EnaFR and possibly anti-Wrb, whereas the serum of her MkMk sister contained no atypical antibodies. Total absence of sialoglycoproteins alpha and delta from red cell membranes of an Mk homozygote was demonstrated by lactoperoxidase-catalysed radioiodination of accessible tyrosine residues with subsequent SDS polyacrylamide gel electrophoresis and autoradiography, and by use of a monoclonal antibody directed at the cytoplasmic portion of alpha-sialoglycoprotein.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Consanguinity
  • Female
  • Homozygote
  • Humans
  • MNSs Blood-Group System / genetics*
  • Pedigree
  • Sialoglycoproteins / deficiency
  • Sialoglycoproteins / genetics

Substances

  • MNSs Blood-Group System
  • Sialoglycoproteins