A Japanese family with two sisters apparently homozygous for Mk.
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.
Okubo
Y
Y
Osaka Red Cross Blood Center, Japan.
Daniels
G L
GL
Parsons
S F
SF
Anstee
D J
DJ
Yamaguchi
H
H
Tomita
T
T
Seno
T
T
D000328:Adult; D003241:Consanguinity; D005260:Female; D006720:Homozygote; D006801:Humans; D008951:MNSs Blood-Group System / Q000235:genetics*; D010375:Pedigree; D012795:Sialoglycoproteins / Q000172:deficiency / Q000235:genetics
D008951:MNSs Blood-Group System; D012795:Sialoglycoproteins