A southern analysis of Rh blood group genes: association between
restriction fragment length polymorphism patterns and Rh serotypes
CA Hyland, LC Wolter, YW Liew and A Saul
Australian Red Cross Blood Transfusion Service, Queensland Division,
Brisbane.
Polymorphisms within the Rh blood group system have been defined by
serologic agglutination methods, but have not yet been defined at the DNA
level. Two closely related genes associated with the Rh D antigen and with
the Rh C/c and E/e antigens have been cloned. We used a Southern analysis
incorporating probes to the 5' and 3' regions of the Rh C, E gene and D
gene to identify polymorphisms associated with Rh C/c and E/e antigens,
respectively. The D gene dosage could be determined by comparing the
relative intensities of the D bands with bands from the 5' and 3' region of
the Rh C, E gene. The concordance between restriction fragment length
polymorphism (RFLP) patterns and serologic phenotypes for 102 randomly
selected blood donors was 100% for C, e, and D, 94.8% for c, and 94.3% for
E. The data are consistent with the sequences encoding the C/c epitopes
residing on the 5' side of those for the E/e epitopes. All samples
discordant for the 3' probe and E had the cE (r") serotype. These data show
that the gene coding for the cE serotype is different in Rh-positive and
-negative individuals. The study demonstrates that Rh DNA typing, including
D gene dosage measurements and Rh gene haplotyping, may supplement
traditional serotyping methods in transfusion medicine.
Volume 83,
Issue 2,
pp. 566-572,
01/15/1994
Copyright © 1994 by The American Society of Hematology
