Typing of MNSs blood group specific sequences in the human genome and
characterization of a restriction fragment tightly linked to S-s- alleles
CH Huang, ML Guizzo, J McCreary, EM Leigh and OO Blumenfeld
Department of Biochemistry, Albert Einstein College of Medicine, Bronx, NY
10461.
Human erythrocyte membrane alpha and delta glycophorins (glycophorins A and
B) carry the antigens for the M,N,S,s blood group system. Synthetic
oligonucleotides spanning coding regions for M,N,S, and s epitopes were
used to examine DNAs from 50 individuals selected at random and from
individuals known to exhibit S(-)s(-)U- or S(-)s(-)U+ blood group
phenotypes. We showed that M,N,S,s, blood group-specific sequences occur as
multicopies in the human genome and reside within the alpha and delta
glycophorin genes and also within the third glycophorin gene (glycophorin E
gene). DNA typing with M- and N-epitope-specific probes showed distinct
patterns that allowed correlation of the genotypes with the blood group
phenotypes. The correlation using S- and s-specific probes was less
definite owing to cross-hybridization. An Mspl restriction fragment length
polymorphism (RFLP) residing in the E gene was detected in the black
population. This RFLP is also carried by all individuals tested who exhibit
the S(-)s(-)U- and S(-)s(-)U+ blood groups phenotypes, thereby serving as a
useful marker for the S-s- alleles. The site of cleavage resulting in this
RFLP was localized to the second intron of the E gene, and cleavage could
occur through differential methylation of its two alleles.
Volume 77,
Issue 2,
pp. 381-386,
01/15/1991
Copyright © 1991 by The American Society of Hematology
