Typing of MNSs blood group specific sequences in the human genome and characterization of a restriction fragment tightly linked to S-s- alleles.
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.
Department of Biochemistry, Albert Einstein College of Medicine, Bronx, NY 10461.
C H
CH
Huang
M L
ML
Guizzo
J
J
McCreary
E M
EM
Leigh
O O
OO
Blumenfeld
D000483:Alleles; D044383:Black People; D002874:Chromosome Mapping; D019003:Deoxyribonuclease HpaII; D015252:Deoxyribonucleases, Type II Site-Specific; D006021:Glycophorins / Q000235:genetics*; D006801:Humans; D008951:MNSs Blood-Group System / Q000235:genetics*; D015345:Oligonucleotide Probes / Q000737:chemistry; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
D006021:Glycophorins; D008951:MNSs Blood-Group System; D015345:Oligonucleotide Probes; D019003:Deoxyribonuclease HpaII; D015252:Deoxyribonucleases, Type II Site-Specific