δ Glycophorin (Glycophorin B) Gene Deletion in Two Individuals Homozygous for the S–s–U– Blood Group Phenotype

• Published in: Blood 1987-12, Vol.70 (6), p.1830-1835
• Main Authors: Huang, C-H., Johe, K., Moulds, J.J., Siebert, P.D., Fukuda, M., Blumenfeld, O.O.
• Format: Article
• Language: English
• Subjects: Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy; Biological and medical sciences; Blood. Blood and plasma substitutes. Blood products. Blood cells. Blood typing. Plasmapheresis. Apheresis; Chromosome Deletion; DNA Restriction Enzymes; Erythrocyte Membrane - analysis; Genes; Glycophorins - genetics; Glycoproteins - genetics; Homozygote; Humans; Medical sciences; Membrane Proteins - genetics; MNSs Blood-Group System - genetics; Sialoglycoproteins - genetics; Transfusions. Complications. Transfusion reactions. Cell and gene therapy
• ISSN: 0006-4971; 1528-0020
• DOI: 10.1182/blood.V70.6.1830.1830

Blood cells from two unrelated individuals whose erythrocytes exhibit respectively N S–s–U– and MN S–s–U–blood group phenotypes were examined by immunoblotting, periodic acid-Schiff (PAS) staining, and Southern blotting. Protein bands characteristic of δ glycophorin (glycophorin B) were absent from the immunoblots of whole erythrocyte lysates when probed with polyclonal glycophorin antisera and from isolated erythrocyte membranes stained with PAS reagents. Genomic DNA from the two individuals’ leukocytes was digested with a panel of restriction enzymes and probed with α M glycophorin cDNA obtained from human K562 leukemic cell line. The EcoRI, PstI, and KpnI restriction site patterns were identical to those of S+s+U+ controls in fragment numbers and relative size but differed from controls in band intensities. Restriction mapping with HindIII. PvuII, SacI, MspI, and SamHI revealed that S–s–U– individuals lack fragments that are reproducibly observed in S + S + U+ controls, and most likely encode δ glycophorin. Using truncated 5′ and 3′ cDNA segments as probes and comparing, in control individuals, hybridization intensities of fragments with amino acid sequence homologies, we have inferred the assignment of restriction fragments to the α and δ glycophorin genes. Our results suggest that the absence of δ glycophorin in the two S–s–U– individuals is a result of deletion of the entire δ glycophorin gene. This is the first report of a glycophorin gene deletion.