Review: the molecular basis of the Rh blood group phenotypes

Wagner, Florian; Flegel, Willy A.

doi:10.21307/immunohematology-2019-419

Cited by 79 publications

(9 citation statements)

References 106 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The previous indigenous study also reported only two D-negative individuals (Table 2). 9 The highly polymorphic C antigen expression is driven by the number of exon 2-RHCE reads which are mapped to exon 2 of RHD [39][40][41] (Figure S2). The prevalence of the D+CÀc+E+e+ phenotype was very low in Tiwi and East Asian populations as compared to other populations (Table 3).…”

Section: Frequency Of Rhd/rhce Blood Group Phenotypesmentioning

confidence: 99%

The genomic landscape of blood groups in Indigenous Australians in remote communities

et al. 2022

View full text Add to dashboard Cite

Background: Red blood cell (RBC) membrane-associated blood group systems are clinically significant. Alloimmunisation is a persistent risk associated with blood transfusion owing to the antigen polymorphisms among these RBCassociated blood groups. Next-generation sequencing (NGS) offers an opportunity to characterize the blood group variant profile of a given individual.Australia comprises a large multiethnic population where most blood donors are Caucasian and blood group variants remain poorly studied among Indigenous Australians. In this study, we focused on the Tiwi Islanders, who have lived in relative isolation for thousands of years. Methods and materials:We predicted the blood group phenotype profiles in the Tiwi (457) and 1000 Genomes Phase 3 (1KGP3-2504) cohort individuals using RBCeq (https://www.rbceq.org/). The predicted phenotype prevalence was compared with the previous literature report. Results: We report, for the first time, comprehensive blood group profiles corresponding to the 35 known blood group systems among the Indigenous Tiwi islander population and identify possible novel antigen variants therein.Our results demonstrate that the genetic makeup of the Tiwi participants is distinct from that of other populations, with a low prevalence of LU (Au[aÀb+]

show abstract

Section: Frequency Of Rhd/rhce Blood Group Phenotypesmentioning

confidence: 99%

The genomic landscape of blood groups in Indigenous Australians in remote communities

et al. 2022

View full text Add to dashboard Cite

show abstract

“…The molecular analysis showed that in people with DEL, the RHD gene was still there or there was a partial DEL with the loss of an epitope D ( 47 ). DEL variants are caused by changes in the RHD gene structure, the splice site, or exon 9 ( 48 ). Currently, 40 alleles have been associated with DEL, with frequencies varying according to ethnic background ( 49 ).…”

Section: Discussionmentioning

confidence: 99%

Genotype analysis to clarify RhD variants in discrepant samples of Chilean population

Aburto,

Zapata,

Retamales

et al. 2023

Front. Immunol.

View full text Add to dashboard Cite

IntroductionThe D antigen variants are classified as weak, partial, and extremely weak (DEL) and can be differentiated using molecular tests. In Chile, the laboratories of local blood centers do not identify variants of the D antigen, referring them for study to the Reference Laboratory of the Public Health Institute of Chile. So, our aim was to talk about the results of the molecular analysis of variants of the D antigen in samples that had different results in the serological classification.MethodsIn the D antigen classification of the Rh system, 479 samples with serological discrepant results were sent for molecular analysis. The Rh phenotype was performed with monoclonal anti-C, anti-c, anti-E, and anti-e antisera by direct agglutination. To find the D antigen, researchers used direct agglutination with monoclonal antisera and indirect antiglobulin testing with the column (gel) agglutination method. Molecular analysis was performed with a polymerase chain reaction with sequence-specific primers (SSP-PCR) and sequencing.Results and discussionThe presence of D antigen variants was confirmed in 332 samples (69.3%), with an initial discrepancy in serological classification. In this group of discrepant samples, the frequency of weak RhD variants was 66% (219/332), that of extremely weak RhD was 28% (93/332), and that of partial RhD was 6% (20/332). The weak variants type 2 (27.4%), type 3 (8.4%), type 48 (8.4%), and type 1 (8.1%) were the next most prevalent variants after RHD*DEL43 (28%). The ccEe (R2r) phenotype was the most frequently detected (38.4%) and is present in 87% of the RHD*DEL43 samples. The E antigen is associated with the presence of this variant. Our analyses give the first description of D antigen variants in Chile. The most common variants are DEL type (RHD*DEL43) and weak (weak type 2), which are linked to the ccDEe (R2r) phenotype. These findings allow us to characterize the variants of the D antigen in Chile and, according to the obtained data, to design strategies for the management of donors, patients, and pregnant women.

show abstract

“…Individuals who lack RhD protein, ‘Rh or D negative’, most often have a complete deletion of the RHD gene. The difference between two highly homologous genes is on intron 4, where RHD contains a deletion of 600 bp in relation to RHCE 23 . This characteristic was utilized in the current study where a primer set was used on the sample of an RhD-positive individual to yield two products, one from the RHD gene (600 bp) and another from RHCE gene (1200 bp).…”

Section: Discussionmentioning

confidence: 99%

Molecular basis of RhD-negative phenotype in North Indian blood donor population

Khetan¹,

Shukla²,

Chaudhary³

2022

Indian J Med Res

View full text Add to dashboard Cite

Background & objectives: RHD gene typing is highly complex due to homology with RHCE genes. Molecular polymorphism of the RHCE and RHD genes have been characterized among various populations, but no studies have been undertaken among Indians. This study was undertaken to assess the genetic basis of RHD-negative phenotype in Indian blood donor population. Methods: Sample from a total of 200 phenotypically RhD-negative blood donors were analyzed for presence of RHD gene using polymerase chain reaction (PCR). RHD genotyping was done using three primer sets designed for exons 4 and 10 and one set for identification of pseudo ( RHDΨ) gene between introns (int) 3 and 4. Amplified PCR products were analyzed by gel-electrophoresis (XY Loper, Uvitech, Cambridge) and confirmed by nucleotide sequencing (ABI 3730 xl 96 capillary system). Results: No PCR product was found in 195/200 (97.5%) of study samples indicating homozygous gene deletion. Of the 5/200 (2.5%) showing RHD gene polymorphisms, 4/200 (2%) were positive for presence of exon 10 only (RHD-CE-D hybrid). RHDΨ gene was not detected in any of the samples tested. One sample showed presence of all three tested regions and was negative for RHDΨ gene. Interpretation & conclusions: RHD gene deletion was found to be the most common cause of an RHD-negative phenotype while RHDΨ gene was, reported to be present in up to 39 per cent of various ethnic populations, but was not detected. RHD-CE-D hybrid gene (found in 2.5% individuals) is important for predicting the requirement of Rh prophylaxis during the antenatal period.

show abstract

Review: the molecular basis of the Rh blood group phenotypes

Cited by 79 publications

References 106 publications

The genomic landscape of blood groups in Indigenous Australians in remote communities

The genomic landscape of blood groups in Indigenous Australians in remote communities

Genotype analysis to clarify RhD variants in discrepant samples of Chilean population

Molecular basis of RhD-negative phenotype in North Indian blood donor population

Contact Info

Product

Resources

About