Studies on the blood of an MiV/Mk proposita and her family.
An individual (J-1) was shown to be heterozygous for the MiV and Mk genes. Her red cells typed as M+(weak), N-, S-, s+(strong), U+, Hil+, Wr(a-b-), En(a+weak). Polyacrylamide gel electrophoresis analysis of her red cell membranes revealed absence of PAS-staining bands corresponding to normal MN and Ss sialoglycoprotein (SGP), and presence of a hybrid MNSs SGP [(alpha-delta)MiV] similar but not identical to that reported for an MiV homozygote. However, J-1 cannot be homozygous for MiV since the red cells of two of her children are Hil- and s-, carry only a single dose of M antigen, and have a sialic acid content that is consistent with the presumption that they are Mk heterozygotes. J-1's hybrid MNSs SGP is considered to be gene-fusion product resulting from unequal crossover between a normal alpha M and delta gene, and her red cells lack that portion of the Ena antigen that is resistant to ficin. Her hybrid MNSs SGP differs, therefore, from that reported for the MiV homozygote, which probably arose from unequal crossover between alpha N and delta genes. Further, the red cells of the MiV homozygote carry the ficin-resistant Ena determinant.
D000368:Aged; D001788:Blood Grouping and Crossmatching; D004910:Erythrocyte Membrane / Q000032:analysis; D005260:Female; D005838:Genotype; D006801:Humans; D008951:MNSs Blood-Group System / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010503:Periodic Acid-Schiff Reaction; D010641:Phenotype; D012794:Sialic Acids / Q000097:blood; D012795:Sialoglycoproteins / Q000097:blood
D008951:MNSs Blood-Group System; D012794:Sialic Acids; D012795:Sialoglycoproteins