Evolution of technology for molecular genotyping in blood group systems

Gorakshakar, Ajit; Gogri, Harita; Ghosh, Kanjaksha

doi:10.4103/ijmr.ijmr_914_16

Cited by 7 publications

References 83 publications

(90 reference statements)

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Methods for blood group antigens detection: cost-effectiveness analysis of phenotyping and genotyping

Quirino

Colli

Macedo

et al. 2019

Hematology, Transfusion and Cell Therapy

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BackgroundAlloimmunization is a major problem in transfusion practice due to the clinical complications of the patients and the difficulty of choosing a unit of compatible blood product. Serological methods are widely used in blood banks, but they not always determine the phenotype. Thus, genotyping is an important complement to the serology tool as it allows one to predict the phenotype from deoxyribonucleic acid (DNA) with high accuracy.ObjectiveTo compare the centrifugation gel, microarray, Restriction Fragment Length Polymorphismone PCR (PCR-RFLP) and Sequence-Specific Primer PCR (PCR-SSP) techniques, in terms of cost, reaction time and reliability of the results.MethodsThe RHCE, Kidd, Kell and Duffy blood group systems were chosen to determine the approximate cost of each technique, considering the reagents used in both methods and considering only one sample. The time required for the development of each reaction was obtained at the Maringa Regional Blood Center and Immunogenetics Laboratory at the State University of Maringa. Data from Microarray reactions were obtained at the Campinas Blood Center. The results of phenotyping and genotyping of the 16 samples were compiled in a spreadsheet and compared.ResultsThe PCR-SSP was more economical compared to other methods, and the serological method was faster than the molecular methods. However, all methods proved to be effective and safe in the detection of erythrocyte antigens.ConclusionAnalyzing the advantages and limitations of the molecular and serological methods tested in this study, we note that both are important and complementary. However, the choice of a methodology depends on the reality and needs of each health service.

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Methods for blood group antigens detection: cost-effectiveness analysis of phenotyping and genotyping

Quirino

Colli

Macedo

et al. 2019

Hematology, Transfusion and Cell Therapy

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Disparities in ABO blood type determination across diverse ancestries: a systematic review and validation in the All of Us Research Program

Martinez,

Klein,

Martin

et al. 2024

Journal of the American Medical Informatics Association

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Objectives ABO blood types have widespread clinical use and robust associations with disease. The purpose of this study is to evaluate the portability and suitability of tag single-nucleotide polymorphisms (tSNPs) used to determine ABO alleles and blood types across diverse populations in published literature. Materials and Methods Bibliographic databases were searched for studies using tSNPs to determine ABO alleles. We calculated linkage between tSNPs and functional variants across inferred continental ancestry groups from 1000 Genomes. We compared r2 across ancestry and assessed real-world consequences by comparing tSNP-derived blood types to serology in a diverse population from the All of Us Research Program. Results Linkage between functional variants and O allele tSNPs was significantly lower in African (median r2 = 0.443) compared to East Asian (r2 = 0.946, P = 1.1 × 10−5) and European (r2 = 0.869, P = .023) populations. In All of Us, discordance between tSNP-derived blood types and serology was high across all SNPs in African ancestry individuals and linkage was strongly correlated with discordance across all ancestries (ρ = −0.90, P = 3.08 × 10−23). Discussion Many studies determine ABO blood types using tSNPs. However, tSNPs with low linkage disequilibrium promote misinference of ABO blood types, particularly in diverse populations. We observe common use of inappropriate tSNPs to determine ABO blood type, particularly for O alleles and with some tSNPs mistyping up to 58% of individuals. Conclusion Our results highlight the lack of transferability of tSNPs across ancestries and potential exacerbation of disparities in genomic research for underrepresented populations. This is especially relevant as more diverse cohorts are made publicly available.

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Disparities in ABO Blood Type Determination Across Diverse Ancestries: A Systematic Review and Validation in theAll of UsResearch Program

Martinez,

Klein,

Martin

et al. 2024

Preprint

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BackgroundABO blood types have widespread clinical use and robust associations with cardiovascular disease. Many studies determine ABO blood types using tag single nucleotide polymorphisms (tSNPs) to characterize functional variation. However, tSNPs with low linkage disequilibrium (LD) may promote misinference of ABO blood types, particularly in diverse populations.MethodsBibliographic databases were searched for studies (2005-2022) using tSNPs to determine ABO alleles in accordance with PRISMA 2020 guidelines. We calculated linkage between tSNPs and functional variants across inferred continental ancestry groups from 1000 Genomes (AFR, AMR, EAS, EUR). We compared r2across ancestry and assessed real-world consequences by comparing tSNP-derived blood types to serology in a large, diverse population from theAll of UsResearch Program (AoURP).ResultsWe observe a lack of phasing and frequent use of inappropriate tSNPs in blood type determination, particularly for O alleles. Linkage between functional variants and O allele tSNPs was significantly lower in African (median r2=0.443) compared to East Asian (r2=0.946, p=1.1×10-5) and European (r2=0.869, p=0.023). In AoURP, discordance between tSNP-derived blood types and serology was high across all SNPs in African ancestry individuals and linkage was strongly correlated with discordance across all ancestries (ρ=-0.90, p=3.08×10-23).ConclusionWe observe common use of inappropriate tSNPs to determine ABO blood type, particularly for O alleles and with some tSNPs mistyping up to 58% of individuals. Our results highlight the lack of transferability of tSNPs across ancestries and potential exacerbation of disparities in genomic research for underrepresented populations.

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Evolution of technology for molecular genotyping in blood group systems

Cited by 7 publications

References 83 publications

Methods for blood group antigens detection: cost-effectiveness analysis of phenotyping and genotyping

Methods for blood group antigens detection: cost-effectiveness analysis of phenotyping and genotyping

Disparities in ABO blood type determination across diverse ancestries: a systematic review and validation in the All of Us Research Program

Disparities in ABO Blood Type Determination Across Diverse Ancestries: A Systematic Review and Validation in theAll of UsResearch Program

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