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A Novel Single Missense Mutation Identified Along the RH50 Gene in a
Composite Heterozygous Rhnull Blood Donor of the Regulator
Type
C.A. Hyland,
B. Chérif-Zahar,
N. Cowley,
V. Raynal,
J. Parkes,
A. Saul, and
J.P. Cartron
From the Australian Red Cross Blood Service, Brisbane, Queensland;
Queensland Institute of Medical Research, Herston, Queensland,
Australia; and Unite Institut National de la Santé et de la
Recherche Médicale U76, Institut National de la Transfusion
Sanguine, Paris, France.
Rare individuals who lack all of the Rh blood group antigens are
called Rhnull and may be classified as "regulator" or
"amorph" types. The suppression of Rh antigen expression for
regulator types may be attributed to mutations of the RH50
gene, which is independent of the RH locus. The RH50 gene
encodes a glycoprotein that interacts with the Rh proteins to form a
functional complex within the red blood cell membrane. This report
describes an RH50 gene mutation for a previously unclassified
Rhnull donor. Sequencing cDNA clones from Rh50 mRNA
revealed a single base change (G836A) yielding a missense and
nonconservative mutation (Gly279Glu) within a predicted hydrophobic
domain for this membrane protein. Genomic DNA studies using polymerase
chain reaction (PCR) restriction analysis and sequencing showed that
the Rhnull propositus was a composite heterozygote for this
mutation, carrying two alleles with the A and G at nucleotide 836, respectively. In contrast, cDNA studies showed that only the A836
sequence was present, suggesting that the second allele with G836 was
apparently silent (no transcript detected). Family studies showed that
the mutant RH50 allele (836A) was inherited maternally, whereas
the silent RH50 allele (836G) was from paternal transmission.
These findings provide further evidence that rare but diverse genetic
alterations may occur along the RH50 gene where the
Rhnull syndrome of the regulator type occurs. The single
amino acid change (Gly to Glu) provides insight into the critical value
of these residues for assembly of the Rh antigen complex within the
membrane.
Blood, Vol. 91 No. 4 (February 15), 1998:
pp. 1458-1463
© 1998 by The American Society of Hematology.
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