A PCR‐based strategy for Dombrock screening in Brazilian blood donors reveals a novel allele: the <i>DO<sup>*</sup>A‐WL</i>

Baleotti, Wilson; Suzuki, Rodrigo Buzinaro; Santi, Milena Polotto de; Ruiz, Marcelo O.; Fabron, Antonio; Castilho, Lilian

doi:10.1002/jcla.20436

Cited by 8 publications

(11 citation statements)

References 18 publications

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“…A significant number of blood group polymorphisms abolish or generate a restriction enzyme recognition site . For example, ABO, K/k, Fy a /Fy b , Jk a /Jk b , Do a /Do b , Yt a /Yt b and Co a /Co b genotyping can be performed through this technique . After PCR amplification of the target DNA sequence, the amplified product is digested with an appropriate restriction enzyme.…”

Section: Low‐throughput Techniquesmentioning

confidence: 99%

Molecular tools for investigating immunohaematology problems

Peyrard

2015

ISBT Science Series

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Blood types are classically determined by haemagglutination methods. However, several backgrounds represent limitations for serological techniques, which may be overcome by molecular testing, for example blood typing in recently transfused patients or in case of a positive IgG direct antiglobulin test when indirect antiglobulin testing is required for antisera. A multitude of molecular tools are available and can be separated in five groups: low‐throughput tests, medium‐ to high‐throughput assays, genomic DNA sequencing, high‐throughput DNA sequencing devices and other specialized techniques. The low‐throughput tests especially include PCR‐restriction fragment length polymorphism (RFLP) and manual allele‐specific PCR techniques. The medium‐to high‐throughput systems, mainly real‐time PCR, microarray DNA chips and mass spectrometry, allow for the testing of multiple different SNPs. The so‐called ‘next‐generation sequencing’ technologies can analyse 10 Mb to 1000 Gb per run. Their implementation in transfusion medicine is currently developed by a few teams worldwide, and they may become a major investigating tool in the next future. Standard genomic DNA sequencing may be used when genotyping assays are unavailable or when screening for common mutations by genotyping devices is inconclusive. Specialized techniques, reserved for complex cases or research, are performed after messenger RNA extraction, followed by reverse transcription into complementary DNA, which may be directly sequenced or cloned with plasmid vectors for single‐allele sequencing. Finally, electronic databases are also very helpful tools in molecular immunohaematology, for example the resources from the National Center for Biotechnology Information (NCBI), Rhesus Base and the ISBT Website of the Working Party on Red Cell Immunogenetics and Blood Group Terminology.

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Section: Low‐throughput Techniquesmentioning

confidence: 99%

Molecular tools for investigating immunohaematology problems

Peyrard

2015

ISBT Science Series

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“…Moreover, in Brazil, interethnic crosses from four continents, Europe, Africa, America and Asia, have formed one of the most heterogeneous populations in the world (Parra et al, 2003;Pena et al, 2011;Durso et al, 2014). Although there are data concerning RBC allelic variability throughout the country (Ribeiro et al, 2009;Baleotti et al, 2011;Credidio et al, 2011;Guelsin et al, 2011;Cruz et al, 2012;Faria et al, 2012;Mota et al, 2012;Arnoni et al, 2013;Piassi et al, 2013;Costa et al, 2016aCosta et al, , 2016bZacarias et al, 2016), such data are not available for Rio Grande do Sul in southern Brazil. In general, these data may improve the searchability and availability of compatible blood units for patients with antibodies to blood group antigens.…”

Section: Introductionmentioning

confidence: 99%

Genetic variability of blood groups in southern Brazil

et al. 2020

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We evaluated genetic variability among the blood groups Kell (c.578C > T and c.1790T > C), Kidd (c.838A > G), Duffy (c.125A > G, c.265C > T and c.1-67T > C), Diego (c.2561C > T), MNS (c.143T > C) and Rh (c.676G > C) in Rio Grande do Sul in southern Brazil. Genetic profiling from 382 volunteer blood donors was performed through allelic discrimination assays using a hydrolysis probe (TaqMan®) with a real-time PCR system. The sample was divided into two groups: Euro-Brazilian and Afro-Brazilian. A comparison with studies from other regions of Brazil and the 1000 Genomes Database showed significant differences for almost all polymorphisms evaluated in our population. Population differentiation between the Euro-and Afro-Brazilian groups was low (F ST value 0.055). However, when each locus was evaluated individually, KEL*06 and FY*02N.01 allele frequencies were significantly higher in the Afro-Brazilian group than in the Euro-Brazilian group. Ethnic classification that uses phenotypic criteria to find blood units with rare antigens may be important when there is a need to detect blood units with an absence of Duffy antigens. There is also a greater probability of finding donors in the Afro-Brazilian group. Taken together, the data indicate strong European and African contributions to the gene pool, with intense admixture.

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“…In Brazil, three new alleles have already been identified: DO*B-WL (898C>G), DO*A-SH (624T>C), and DO*A-WL (898C>G) (5,11) . In addition, molecular studies of the DO alleles revealed that JO is more common than HY in Brazil, whereas HY is more prevalent in New York (12) .…”

Section: Introductionmentioning

confidence: 99%

Dombrock genotyping in Brazilian blood donors reveals different regional frequencies of the HY allele

Piassi

Santos

Castilho

et al. 2013

Revista Brasileira De Hematologia E Hemoterapia

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BackgroundDombrock blood group system genotyping has revealed various rearrangements of the Dombrock gene and identified new variant alleles in Brazil (i.e., DO*A-SH, DO*A-WL and DO*B-WL). Because of the high heterogeneity of the Brazilian population, interregional differences are expected during the investigation of Dombrock genotypes. ObjectiveThe present study aims to determine the frequencies of Dombrock genotypes in blood donors from Minas Gerais and compare the frequencies of the HY and JO alleles to those of another population in Brazil. MethodsThe frequencies of the DO alleles in Minas Gerais, a southeastern state of Brazil, were determined from the genotyping of 270 blood donors. Genotyping involved polymerase chain reaction and restriction fragment length polymorphism analysis to identify the 323G>T, 350C>T, 793A>G, and 898C>G mutations, which are related to the HY, JO, DO*A/DO*B, and DO*A-WL/DO*B-WL alleles, respectively. Moreover, the frequencies of rare HY and JO alleles were statistically compared using the chi-square test with data from another Brazilian region. ResultsThe HY allele frequency in Minas Gerais (2.4%) was almost twice that of the JO allele (1.5%). The frequency of the HY allele was significantly higher (p-value = 0.001) than that in another Brazilian population and includes a rare homozygous donor with the Hy- phenotype. In addition, the DO*A-WL and DO*B-WL alleles, which were first identified in Brazil, were found in the state of Minas Gerais. ConclusionsThe data confirm that the frequencies of DO alleles differ between regions in Brazil. The population of Minas Gerais could be targeted in a screening strategy to identify the Hy- phenotype in order to develop a rare blood bank.

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A PCR‐based strategy for Dombrock screening in Brazilian blood donors reveals a novel allele: the DO^A‐WL*

Abstract: Molecular screening of Brazilians revealed one novel allele, the DO(*) A-WL. Our data highlight the importance of testing a cohort of different populations to determine DO haplotypes and to establish reliable genotyping tests for predicting Do(a)/Do(b) status.

Cited by 8 publications

References 18 publications

Molecular tools for investigating immunohaematology problems

Molecular tools for investigating immunohaematology problems

Genetic variability of blood groups in southern Brazil

Dombrock genotyping in Brazilian blood donors reveals different regional frequencies of the HY allele

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A PCR‐based strategy for Dombrock screening in Brazilian blood donors reveals a novel allele: the DO*A‐WL

Abstract: Molecular screening of Brazilians revealed one novel allele, the DO(*) A-WL. Our data highlight the importance of testing a cohort of different populations to determine DO haplotypes and to establish reliable genotyping tests for predicting Do(a)/Do(b) status.

Cited by 8 publications

References 18 publications

Molecular tools for investigating immunohaematology problems

Molecular tools for investigating immunohaematology problems

Genetic variability of blood groups in southern Brazil

Dombrock genotyping in Brazilian blood donors reveals different regional frequencies of the HY allele

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A PCR‐based strategy for Dombrock screening in Brazilian blood donors reveals a novel allele: the DO^A‐WL*