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Updated: Sep 5, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio
Published on: August 24, 2013
A Japanese family with two sisters apparently homozygous for Mk
Y Okubo1, G L Daniels, S F Parsons
1Osaka Red Cross Blood Center, Japan.
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.
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