Molecular Bases and Genotyping for Rare Blood Types

Jungbauer, Christof

doi:10.1159/000214430

Cited by 17 publications

(14 citation statements)

References 31 publications

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“…Additionally, Vel genotyping could now be integrated into the current blood group genotyping platforms. Large‐scale Vel genotyping of blood donors should ultimately solve the Vel− blood supply challenge (Jungbauer, 2009; Veldhuisen et al, 2009).…”

Section: Discussionmentioning

confidence: 99%

Disruption of SMIM1 causes the Vel− blood type

et al. 2013

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Here, we report the biochemical and genetic basis of the Vel blood group antigen, which has been a vexing mystery for decades, especially as anti-Vel regularly causes severe haemolytic transfusion reactions. The protein carrying the Vel blood group antigen was biochemically purified from red blood cell membranes. Mass spectrometry-based de novo peptide sequencing identified this protein to be small integral membrane protein 1 (SMIM1), a previously uncharacterized single-pass membrane protein. Expression of SMIM1 cDNA in Vel− cultured cells generated anti-Vel cell surface reactivity, confirming that SMIM1 encoded the Vel blood group antigen. A cohort of 70 Vel− individuals was found to be uniformly homozygous for a 17 nucleotide deletion in the coding sequence of SMIM1. The genetic homogeneity of the Vel− blood type, likely having a common origin, facilitated the development of two highly specific DNA-based tests for rapid Vel genotyping, which can be easily integrated into blood group genotyping platforms. These results answer a 60-year-old riddle and provide tools of immediate assistance to all clinicians involved in the care of Vel− patients.

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Section: Discussionmentioning

confidence: 99%

Disruption of SMIM1 causes the Vel− blood type

et al. 2013

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“…The molecular bases of almost all the clinically significant blood group polymorphisms are known and blood group genotyping is becoming increasingly used as it has a number of advantages over conventional blood group serology [1–4]. For example, genotyping can be used when reliable serological reagents are unavailable to type minor antigens and variants, for blood typing red cells with a positive direct antiglobulin test, and typing multiply transfused patients.…”

Section: Introductionmentioning

confidence: 99%

International reference reagents to standardise blood group genotyping: evaluation of candidate preparations in an international collaborative study

et al. 2012

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“…The identification of rare blood donors is usually performed by phenotyping, which is hampered by the paucity of commercial antibodies or by DNA‐based techniques . Molecular methods for blood group analysis, including low‐, medium‐ and high‐throughput techniques, coexist in different centres around the world and have been continuously developed and improved.…”

Section: Introductionmentioning

confidence: 99%

The screening of rare blood donors in a highly admixed population: A new approach for Holley and Diego genotyping and impact of genomic and self‐reported ancestry

Muniz

Silva

Ferraz

et al. 2019

Transfusion Medicine

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Objectives: The present study aimed to develop strategies for genotyping DO*HY (Dombrock system) and DI*A/DI*B (Diego system) alleles and to evaluate the impact of genomic and self-declared ancestry on rare donor screening in admixed populations.Background: The antigens Hy and Di b demonstrate clinical importance. The lack of antisera for the serological evaluation of these antigens makes it necessary to develop molecular methods. In addition, considering that some rare red blood cell phenotypes present differences in frequency between ethnic groups, it is important to assess the applicability of self-declared ancestry in the search for rare donors in admixed populations.Methods: DO*HY and DI*A/DI*B genotyping based on real-time polymerase chain reaction (PCR) was standardised. A total of 457 blood donors clustered by selfdefined skin colour/race categories were genotyped. Furthermore, individual genomic ancestry was used in the analyses. Results:The assays developed are reproducible and provide satisfactory results even at low concentrations of DNA, which make them useful in situations where the DNA is scarce, such as dried blood spots on filter paper, or when screening for pooled samples. No significant difference was observed in the frequencies of the DI*A, DI*B and DO*HY, comparing the self-declared White (branco) donors with those who are Black (preto) and Brown (pardo). Conclusion:Real-time PCR, especially using pooled samples, is a promising strategy to screen rare blood donors. Although both self-reported race/colour and some blood group phenotypes are associated with ancestry, the results point to a greater complexity in the application of self-declared race/colour in the screening of rare donors in admixed populations. K E Y W O R D S ancestry, Diego, Dombrock, rare blood donor Amanda A. Muniz and Adão R. da Silva contributed equally to this study.

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Molecular Bases and Genotyping for Rare Blood Types

Cited by 17 publications

References 31 publications

Disruption of SMIM1 causes the Vel− blood type

Disruption of SMIM1 causes the Vel− blood type

International reference reagents to standardise blood group genotyping: evaluation of candidate preparations in an international collaborative study

The screening of rare blood donors in a highly admixed population: A new approach for Holley and Diego genotyping and impact of genomic and self‐reported ancestry

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