Defining the Rh blood group antigens

Cartron, JP

doi:10.1016/0268-960x(94)90108-2

Cited by 165 publications

(41 citation statements)

References 89 publications

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“…Maternal anti-D can cause haemolytic disease of the newborn, which occasionally causes severe fetal anaemia and neonatal death (Mollison et al, 1993). Considerable advances in our understanding of the molecular basis of Rh D antigen expression have been made in recent years (for reviews see Anstee & Tanner, 1993;Cartron, 1994).…”

Section: Summary the Discovery Of Rh Partial D Variant Red Cells By mentioning

confidence: 99%

“…Significant progress has been made in the determination of the molecular basis of D variants (for reviews see Cartron, 1994;Tippett et al, 1996). Most of those described in the literature involve interaction between the RHCE and RHD genes whereby RHD exons are replaced by counterparts from the RHCE gene, with resultant loss of Rh D epitopes encoded by these RHD exons.…”

Section: Summary the Discovery Of Rh Partial D Variant Red Cells By mentioning

confidence: 99%

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Molecular basis of the D variant phenotypes DNU and D^II allows localization of critical amino acids required for expression of Rh D epitopes epD3, 4 and 9 to the sixth external domain of the Rh D protein

et al. 1997

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Summary. The discovery of Rh partial D variant red cells by discrepant reactions with different monoclonal anti-D hasdemonstrated the range of Rh D epitopes that have arisen due to alterations in Rh D protein structure. There are two current classification systems, one which uses a nine epitope model (epD1-epD9) whereas a more recent model proposes 30 different epitopes. We describe here the molecular basis of two D variants which lack epD4 and epD9 namely the DNU and D II phenotypes. These would have both been originally classified as D II phenotype individuals, but we have revealed subtle differences in the serological profile of these erythrocytes. Such a differential reactivity and determination of the molecular bases of these phenotypes allows us to predict critical amino acids for epD3, epD4 and epD9 expression. The DNU phenotype arises from a single point mutation in the RHD gene resulting in a single amino acid change (Gly353Arg). Sequence analysis of exon 7 of the RHD gene derived from the D II propositus indicates that there is a single point mutation in this exon resulting in a single amino acid change (Ala354Asp). It is likely that this point mutation gives rise to the D II phenotype. Both mutations result in the change to Rh D-specific residues. Our results indicate that the following amino acids are crucial for epD3a

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Section: Summary the Discovery Of Rh Partial D Variant Red Cells By mentioning

confidence: 99%

Section: Summary the Discovery Of Rh Partial D Variant Red Cells By mentioning

confidence: 99%

Molecular basis of the D variant phenotypes DNU and D^II allows localization of critical amino acids required for expression of Rh D epitopes epD3, 4 and 9 to the sixth external domain of the Rh D protein

et al. 1997

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“…All current predictions of Rh antigen structure have been made by extrapolation of sequence changes observed at the DNA or mRNA level (see Ref. 3 …”

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confidence: 99%

Immunochemical Analysis of the Human Erythrocyte Rh Polypeptides

Avent

Liu

Warner

et al. 1996

Journal of Biological Chemistry

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“…1 These donors exhibit a mild clinical syndrome, called Rh-deficiency syndrome, characterized by a chronic hemolytic anemia in which the red blood cells have a stomatocytosis morphology, an increased osmotic fragility, an altered ion transport system, and abnormal membrane phospholipid organization. 2,3 Family studies show that two classes of Rh null types exist and arise from independent genetic events. The ''amorph'' type is caused by homozygosity for a silent allele at the RH locus, whereas the more common ''regulator'' type is apparently caused by homozygosity for an autosomal suppressor gene (X o r) that is genetically independent of the RH locus.…”

mentioning

confidence: 99%

“…4,5 Protein defects of the Rh null cell membranes include the lack of Rh30 and LW polypeptides and the absence or severe reduction of Rh50 and CD47. 3 In addition, a reduced expression of the S/s antigens on glycophorin B and of other blood group antigens (Fy 5 , U, and Duclos) has been documented. 10 The gene encoding the Rh50 protein has been cloned and sequenced and maps to chromosome 6p11-p21.…”

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confidence: 99%

A novel single missense mutation identified along the RH50 gene in a composite heterozygous Rhnull blood donor of the regulator type

1998

Transfusion Medicine Reviews

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Rare individuals who lack all of the Rh blood group antigens are called Rh null 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 Rh null 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 Rh null 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 Rh null 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.

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Defining the Rh blood group antigens

Cited by 165 publications

References 89 publications

Molecular basis of the D variant phenotypes DNU and D^II allows localization of critical amino acids required for expression of Rh D epitopes epD3, 4 and 9 to the sixth external domain of the Rh D protein

Molecular basis of the D variant phenotypes DNU and D^II allows localization of critical amino acids required for expression of Rh D epitopes epD3, 4 and 9 to the sixth external domain of the Rh D protein

Immunochemical Analysis of the Human Erythrocyte Rh Polypeptides

A novel single missense mutation identified along the RH50 gene in a composite heterozygous Rhnull blood donor of the regulator type

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Defining the Rh blood group antigens

Cited by 165 publications

References 89 publications

Molecular basis of the D variant phenotypes DNU and DII allows localization of critical amino acids required for expression of Rh D epitopes epD3, 4 and 9 to the sixth external domain of the Rh D protein

Molecular basis of the D variant phenotypes DNU and DII allows localization of critical amino acids required for expression of Rh D epitopes epD3, 4 and 9 to the sixth external domain of the Rh D protein

Immunochemical Analysis of the Human Erythrocyte Rh Polypeptides

A novel single missense mutation identified along the RH50 gene in a composite heterozygous Rhnull blood donor of the regulator type

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Molecular basis of the D variant phenotypes DNU and D^II allows localization of critical amino acids required for expression of Rh D epitopes epD3, 4 and 9 to the sixth external domain of the Rh D protein

Molecular basis of the D variant phenotypes DNU and D^II allows localization of critical amino acids required for expression of Rh D epitopes epD3, 4 and 9 to the sixth external domain of the Rh D protein