Comprehensive analysis of <i>RHD</i> alleles in Argentineans with variant D phenotypes

Brajovich, Melina Eliana Luján; Boggione, Carolina Trucco; Biondi, Claudia; Racca, Amelia; Tarragó, Marcel; Nogués, Núria; Muñiz‐Díaz, Eduardo; Cotorruelo, Carlos

doi:10.1111/j.1537-2995.2011.03297.x

Cited by 18 publications

(16 citation statements)

References 29 publications

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“…However, the optimal application of DNA typing requires an exhaustive analysis of the polymorphisms and allele distribution of the blood group genes under study, in particular of the RH system, since a high level of genetic variability was observed in this system among different ethnic groups . In a previous study, we analyzed the RHD allele pool responsible for altered D antigen expression and determined the frequency of the D– phenotype in the overall Argentinean population, which was 7.2% . In this work we examined the RHD locus in routine serologically D– individuals of this admixed population.…”

Section: Discussionmentioning

confidence: 99%

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Molecular structures identified in serologically D– samples of an admixed population

et al. 2014

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The prevalence of D-/RHD+ samples is higher than that observed in Europeans. More than 50% of the RHD alleles found were represented by RHDψ and RHD-CE-D(s) showing the African contribution to the genetic pool of the admixed population analyzed. Interestingly, three new alleles were found, two of them being hybrid structures between previously described RHD variants recombined with RHCE sequences. The knowledge of the RHD allele repertoire in our population allowed the implementation of reliable typing and transfusion strategies for a better management of patients and pregnant women.

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Section: Discussionmentioning

confidence: 99%

“…The rest of the D–/ RHD + samples were subjected to an RHD exon scanning procedure based on PCR‐SSP to analyze multiple RHD exon polymorphisms . When RHD Exons 3 to 7 were not amplified, the RHD‐CE‐D s allele was investigated by a specific PCR that amplifies a 5′RHD‐RHCE3′ hybrid Exon 3 characteristic of the Type 1 variant .…”

Section: Methodsmentioning

confidence: 99%

Molecular structures identified in serologically D– samples of an admixed population

et al. 2014

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“…Previous reports have already described other methods and strategies to identify D variants and laboratory‐developed tests are still a good option . Besides that, commercial kits are also available, from kits based on sequence‐specific primers PCR that covers a limited numbers of D variants to high‐throughput methods, as microarrays 10,12‐14…”

Section: Benefits Of the Molecular Approachmentioning

confidence: 99%

How do we identify RHD variants using a practical molecular approach?

et al. 2014

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Serologic resolution of Rh discrepancies due to partial D or weak D phenotypes is a frequent problem encountered during routine typing that can be solved by RHD genotyping because it provides better characterization of these variants. The objective of the current study was to develop algorithms for identification of D variants in multiethnic populations based on a logic sequence of molecular tests using a large number of atypical RhD specimens. Thus, a total of 360 blood samples with atypical D antigen expression were analyzed. A previously published multiplex polymerase chain reaction (PCR) procedure was performed and depending on multiplex PCR analysis, the associated RHCE allele, and D variant frequency in our population, an algorithm was developed composed of six flow charts using specific PCR-restriction fragment length polymorphism and/or specific exon sequencing. This strategy allowed the identification of 22 different variants with few assays and a much reduced cost. This study describes a simple and practical algorithm that we use to determine RHD genotypes in samples with unknown RHD. This strategy is relatively easy to implement and the algorithm can be adapted to populations with various ethnic backgrounds after an initial assessment of the type and frequency of D variants. Essentially, we demonstrate that sequencing of all RHD exons is not necessary for the identification of the majority of known D variants.

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“…Genomic DNA was isolated from peripheral blood with a commercially available purification kit (ADN PuriPrep‐S, INBIO Highway). Most common weak D and partial D alleles were investigated by allele‐specific polymerase chain reaction (PCR) techniques . DNA array analysis was performed with the RHD BeadChip platform from BioArray Solutions (Immucor), which uses probes directed to polymorphic sites for many RHD variants .…”

Section: Brief Methodsmentioning

confidence: 99%