An anti-EnaTS detected in the serum of an MiI homozygote.
The serum of EH reacted with all red cells (RBCs) except her own, ficin- or trypsin-treated red cells, and En(a-) red cells. This reactivity defined an anti-EnaTS specificity. The red cells of the proposita typed as M-N+S-S+, Vw+Mur-Hil-Hut-Anek-Lane-, Wr(a-b+), EnaKT+. Red cells of five relatives were Vw+ and positive with her serum. Titration studies suggest that EH is genetically an MiI homozygote and that her Vw+ relatives are MiI heterozygotes. There is no history of consanguinity. Sodium dodecyl sulfate-polyacrylamide gel electrophoresis and immunoblotting studies have agreed with the serologic observations. A variant sialoglycoprotein of faster mobility than normal glycoprotein A, but no normal glycoprotein A, was detected on her red cells. Treatment with N-glycanase did not alter the mobility, which indicated that there was no N-glycosylation of residue 26. These findings are in agreement with the reported properties of the Mi.I-specific glycoprotein A. The relatives' Vw+ red cells showed the variant sialoglycoprotein and normal glycoprotein A. EH appears to be the first reported MiI homozygote.
Spruell
P
P
Department of Consultation and Education, Gamma Biologicals, Houston, Texas.
Moulds
J J
JJ
Martin
M
M
Gilcher
R O
RO
Howard
P B
PB
Blumenfeld
O O
OO
D000368:Aged; D000918:Antibody Specificity; D001789:Blood Group Antigens / Q000276:immunology*; D001788:Blood Grouping and Crossmatching; D001798:Blood Proteins; D004591:Electrophoresis, Polyacrylamide Gel; D004910:Erythrocyte Membrane / Q000737:chemistry / Q000276:immunology; D005260:Female; D006023:Glycoproteins / Q000097:blood; D006720:Homozygote; D006801:Humans; D007518:Isoantibodies / Q000097:blood* / Q000276:immunology; D008951:MNSs Blood-Group System; D010375:Pedigree; D010641:Phenotype; D012967:Sodium Dodecyl Sulfate
D001789:Blood Group Antigens; D001798:Blood Proteins; D006023:Glycoproteins; D007518:Isoantibodies; D008951:MNSs Blood-Group System; D012967:Sodium Dodecyl Sulfate