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The coding sequence of Duffy blood group gene in humans and simians:
restriction fragment length polymorphism, antibody and malarial parasite
specificities, and expression in nonerythroid tissues in Duffy- negative
individuals
A Chaudhuri, J Polyakova, V Zbrzezna and AO Pogo
Laboratory of Cell Biology, Lindsley F. Kimball Research Institute, New
York Blood Center, New York 10021.
The coding and untranslated flanking sequences of Duffy gene (FY) in humans
and simians are in a single exon. The difference between the two codominant
alleles, FY*A and FY*B, is a single change at nucleotide 306: guanidine is
in FY*A and adenine is in FY*B. This produces a codon change that
subsequently modifies the amino acid at position 43 of gpFy, the major
subunit of the Duffy blood group protein complex. The glycine at this
position in antigen Fya exchanges with aspartic acid in antigen Fyb. The
guanidine at nucleotide 306 creates an additional Ban I restriction site in
FY*A. Ban I digestion of DNA-PCR amplified products of FY*B and FY*A yields
three and four fragments, respectively. Restriction fragment length
polymorphism (RFLP) studies show that Fy(a+b-) and Fy(a-b+) whites are FY
homozygous, that most Fy(a-b-) blacks have FY*B, and most Fy(a+b-) blacks
are FY*A/FY*B heterozygous. In the black population a silent FY*B is very
common, but a silent FY*A has not been found yet. On RNA blot analysis, the
gpFy cDNA clone detected mRNA in the lung, spleen, and colon but not in the
bone marrow of Duffy-negative individuals. Therefore, there is no null
phenotype in Fy(a-b-) blacks. The gpFy homology between human and
chimpanzee is 99% with a single residue change at position 116 (valine to
isoleucine), whereas a 94% homology is found in squirrel and rhesus
monkeys, and there is a 93% homology in aotus monkey when compared with
humans. The N-terminal exocellular domain of simian gpFy helps to identify
a set of amino acids critical for antibody and malarial parasite
specificities.
Volume 85,
Issue 3,
pp. 615-621,
02/01/1995
Copyright © 1995 by The American Society of Hematology

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