Dombrock gene analysis in Brazilian people reveals novel alleles

Baleotti, Wilson; Rios, María; Reid, Marion E.; Hashmi, Ghazala; Fabron, Antonio; Pellegrino, J.; Castilho, Lilian

doi:10.1111/j.1423-0410.2006.00787.x

Cited by 19 publications

(31 citation statements)

References 19 publications

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“…The haplotype frequencies for the four ethnic cohorts are shown (Table 5). This analysis confirmed earlier results 3,7,26 that SNPs at nucleotides 378 and 624 are not invariably associated with the Do type. The critical SNP is at nucleotide 793.…”

Section: Expanded Hea With Gypb Silencing Mutationssupporting

confidence: 93%

Determination of 24 minor red blood cell antigens for more than 2000 blood donors by high‐throughput DNA analysis

et al. 2007

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Section: Expanded Hea With Gypb Silencing Mutationssupporting

confidence: 93%

Determination of 24 minor red blood cell antigens for more than 2000 blood donors by high‐throughput DNA analysis

et al. 2007

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“…Genotyping studies in this population have shown that the blood group polymorphisms differ significantly from other populations6, 7 and studies inside the country have also shown a heterogeneous distribution of blood group alleles and variants between groups of people from different regions 8, 9. Moreover, the high degree of genetic mixture in the Brazilian population facilitates the generation of new alleles 10, 11. Therefore, studies on the distribution of blood group alleles and variants in donors and patients from different regions of Brazil can report the frequencies of defined polymorphic blood group antigens that function as receptors for parasites, map the rare phenotypes across the country and contribute in the selection of the most adequate blood component for chronically transfused patients.…”

mentioning

confidence: 81%

Blood group polymorphisms in Brazil

Castilho

2016

Revista Brasileira de Hematologia e Hemoterapia

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“…Subjects provided informed consent and the study was approved by the institutional review board. The sample size was calculated assuming a significance level of 5% and 80% power in relation to the prevalence of the DO*B-WL allele which has previously been identified in a Brazilian population (11) .…”

Section: Methodsmentioning

confidence: 99%

“…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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Dombrock gene analysis in Brazilian people reveals novel alleles

Abstract: Our data demonstrate high heterogeneity of DO alleles in the Brazilian population. Our study also highlights the importance of testing a cohort of different populations to determine DO haplotypes and of establishing reliable genotyping tests for predicting Doa/Dob status.

Cited by 19 publications

References 19 publications

Determination of 24 minor red blood cell antigens for more than 2000 blood donors by high‐throughput DNA analysis

Determination of 24 minor red blood cell antigens for more than 2000 blood donors by high‐throughput DNA analysis

Blood group polymorphisms in Brazil

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

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