The <i><scp>RHD</scp>(1227<scp>G</scp></i>&gt;<i><scp>A</scp>)</i> <scp>DEL</scp>‐associated allele is the most prevalent <scp>DEL</scp> allele in <scp>A</scp>ustralian <scp>D</scp>– blood donors with <scp>C</scp>+ and/or <scp>E</scp>+ phenotypes

Scott, Stacy A.; Nagl, Lisa; Tilley, Louise; Liew, Yew‐Wah; Condon, Jenny; Flower, Robert L.; Hyland, Catherine A.

doi:10.1111/trf.12701

Cited by 24 publications

(51 citation statements)

References 51 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The clinical significance of the weak D phenotype expressed by RHD * c.939+3A>C has yet to be described with regard to either RBC immunogenicity or alloimmunisation risk. Diversity in Australian blood donors with a weak D phenotype from this study aligned with that reported of Australian blood donors typed as D– with C+ and/or E+ phenotype, where the ‘Asian DEL’ RHD*1227G>A variant was most prevalent and novel RHD alleles also detected .…”

Section: Discussionsupporting

confidence: 83%

Diverse and novel RHD variants in Australian blood donors with a weak D phenotype: implication for transfusion management

et al. 2017

View full text Add to dashboard Cite

show abstract

Section: Discussionsupporting

confidence: 83%

Diverse and novel RHD variants in Australian blood donors with a weak D phenotype: implication for transfusion management

et al. 2017

View full text Add to dashboard Cite

show abstract

“…The other six variations did not show any evidence of splicing alteration in our model. This observation is particularly intriguing for intronic variation c.148+5G>C found in a DEL sample . It challenges evidently our model here (cell line, minigene structure) as, on the basis of the position of the variant in the intron and the associated phenotype, a significant effect on splicing may have been expected.…”

Section: Discussionmentioning

confidence: 65%

“…An up‐to‐date review of the literature and the RhesusBase was performed . On the basis of their position relative to the constitutive SSs, 15 variations of the RHD gene, including eight exonic (i.e., first, antepenultimate and penultimate position of exons) and seven intronic variants were selected for functional analysis (Table ).…”

Section: Methodsmentioning

confidence: 99%

Functional analysis of novel RHD variants: splicing disruption is likely to be a common mechanism of variant D phenotype

Raud

Gourlaouen

et al. 2019

Transfusion

View full text Add to dashboard Cite

BACKGROUND We previously showed that several variations in the RHD gene, including synonymous changes, can be classified as splice site variants and may play a direct role in D variant phenotype expression. We sought to extend our study to additional candidates, notably in the first and last exons of the gene, by engineering a novel universal splice reporting vector, i.e., minigene. STUDY DESIGN AND METHODS Our previous plasmid construct was modified to allow subcloning of any exon(s) of interest for assessing effect of variations on splicing. Seventeen novel and/or uncharacterized variations of the RHD gene were selected for the study and tested in our novel model. RESULTS We engineered and validated a novel universal minigene for assessing virtually any variations of interest for splicing defect. Of the 17 variants tested in the novel model, 11 were shown to alter splicing either totally or partially, including the silent c.1065C>T variation, which induces major skipping of exon 7, and may therefore be responsible for reducing D antigen expression. We also showed that while all three missense variations c.1154G>C, c.1154G>T, and c.1154G>A in exon 9 are splice site variants, splicing is differentially altered and D‐negative phenotype observed in the presence of the latter substitution is likely due to a defect in RhD protein folding. CONCLUSION Overall, we hypothesize that splicing alteration is likely to be a common mechanism of D phenotype variation that has been underestimated so far. Further large‐scale studies are necessary to demonstrate this statement definitely.

show abstract

“…Published primers were used for RHD Exon 1 to 10 DNA sequencing . Primers (Sigma Aldrich) and polymerase chain reaction (PCR) kit (HotStarTaq master mix kit, QIAGEN) were used for all PCR assays.…”

Section: Methodsmentioning

confidence: 99%

Anti‐D in a mother, hemizygous for the variant RHDDNB* gene, associated with hemolytic disease of the fetus and newborn

et al. 2017

Self Cite

View full text Add to dashboard Cite

The anti-D produced by this woman with partial D DNB resulted in a case of hemolytic disease of the fetus and newborn (HDFN) requiring intensive treatment in the perinatal period. Anti-D formed by women with the partial D DNB phenotype has the potential to cause HDFN where the fetus is D+. Women carrying RHD*DNB should be offered appropriate prophylactic anti-D and be transfused with D- RBCs if not already alloimmunized.

show abstract

The RHD(1227G>A) DEL‐associated allele is the most prevalent DEL allele in Australian D– blood donors with C+ and/or E+ phenotypes

Abstract: DEL/weak D-associated RHD alleles were found in 2.17% of Australian D-, C+ and/or E+ blood donors. This differs from previous European reports in that the clinically significant RHD(1227G>A) DEL allele is the most prevalent.

Cited by 24 publications

References 51 publications

Diverse and novel RHD variants in Australian blood donors with a weak D phenotype: implication for transfusion management

Diverse and novel RHD variants in Australian blood donors with a weak D phenotype: implication for transfusion management

Functional analysis of novel RHD variants: splicing disruption is likely to be a common mechanism of variant D phenotype

Anti‐D in a mother, hemizygous for the variant RHDDNB* gene, associated with hemolytic disease of the fetus and newborn

Contact Info

Product

Resources

About

The RHD(1227G>A) DEL‐associated allele is the most prevalent DEL allele in Australian D– blood donors with C+ and/or E+ phenotypes

Abstract: DEL/weak D-associated RHD alleles were found in 2.17% of Australian D-, C+ and/or E+ blood donors. This differs from previous European reports in that the clinically significant RHD(1227G>A) DEL allele is the most prevalent.

Cited by 24 publications

References 51 publications

Diverse and novel RHD variants in Australian blood donors with a weak D phenotype: implication for transfusion management

Diverse and novel RHD variants in Australian blood donors with a weak D phenotype: implication for transfusion management

Functional analysis of novel RHD variants: splicing disruption is likely to be a common mechanism of variant D phenotype

Anti‐D in a mother, hemizygous for the variant RHD*DNB gene, associated with hemolytic disease of the fetus and newborn

Contact Info

Product

Resources

About

Anti‐D in a mother, hemizygous for the variant RHDDNB* gene, associated with hemolytic disease of the fetus and newborn