Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/342435
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dc.contributor.CRUESPUNIVERSIDADE ESTADUAL DE CAMPINASpt_BR
dc.contributor.authorunicampCastilho, Lilian Maria de-
dc.typeArtigopt_BR
dc.titleCharacterization of RHD locus polymorphism in D negative and D variant donors from northwestern Argentinapt_BR
dc.contributor.authorTrucco Boggione, Carolina-
dc.contributor.authorNogues, Nuria-
dc.contributor.authorGonzalez-Santesteban, Cecilia-
dc.contributor.authorMufarrege, Nicolas-
dc.contributor.authorLujan Brajovich, Melina-
dc.contributor.authorMaris Mattaloni, Stella-
dc.contributor.authorLeri, Monica-
dc.contributor.authorBiondi, Claudia-
dc.contributor.authorMuniz-Diaz, Eduardo-
dc.contributor.authorCastilho, Lilian-
dc.contributor.authorCotorruelo, Carlos-
dc.subjectPolimorfismo (Genética)pt_BR
dc.subject.otherlanguageGenetic polymorphismspt_BR
dc.description.abstractA notable RHD variability has been observed in Central Argentina's current population attributed to the intermixing of different ethnic groups. The Northwestern region of the country is characterized by a markedly Amerindian genetic contribution. In this sense, the definition of the RHD polymorphism in individuals from this area was lacking. A total of 757 donors from Northwestern Argentina, with D negative C and/or E positive (n = 526), and D variant (n = 231) phenotype defined by standard hemmaglutination tube techniques were genotyped using in-house PCR strategies, commercial SNP arrays and Sanger sequencing. RESULTS Among D negative C and/or E positive samples, RHD null (15.40%) and DEL alleles (3.23%) were identified. One unreported SNP c.1001T>A responsible for a null allele was found. RHD*01N.75 (4.18%) and RHD*DEL43 (2.66%) were the most prevalent variants following RHD*03N.01 (8.75%). The characterization of serologic weak D phenotypes showed that RHD*weak D type 1, 2, and 3 variants were found only in 37.24% of the samples, whereas RHD*weak D type 93 was the most prevalent allele (25.11%). Also, a previously unreported missense variation c.764G>A was identified. A RHD genotyping strategy for patients and donors from Northwestern Argentina must consider the detection of the frequently found RHD*01N.75, RHD*DEL43, and RHD*weak D type 93 variants. Taking into account that RHD*DEL43 has scarcely been found in North Americans and Europeans whereas RHD*01N.75 and RHD*weak D type 93 have never been described in populations other than Argentineans, these RHD variants could be attributed to Native Amerindian genetic influencept_BR
dc.relation.ispartofTransfusionpt_BR
dc.publisher.cityHoboken, NJpt_BR
dc.publisher.countryEstados Unidospt_BR
dc.publisherWileypt_BR
dc.date.issued2019-
dc.date.monthofcirculationOct.pt_BR
dc.language.isoengpt_BR
dc.description.volume59pt_BR
dc.description.issuenumber10pt_BR
dc.description.firstpage3236pt_BR
dc.description.lastpage3242pt_BR
dc.rightsFechadopt_BR
dc.sourceWOSpt_BR
dc.identifier.issn0041-1132pt_BR
dc.identifier.eissn1537-2995pt_BR
dc.identifier.doi10.1111/trf.15504pt_BR
dc.identifier.urlhttps://onlinelibrary.wiley.com/doi/full/10.1111/trf.15504pt_BR
dc.description.sponsorshipFUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULO - FAPESPpt_BR
dc.description.sponsordocumentnumbernão tempt_BR
dc.date.available2020-06-02T14:08:24Z-
dc.date.accessioned2020-06-02T14:08:24Z-
dc.description.provenanceSubmitted by Mariana Aparecida Azevedo (mary1@unicamp.br) on 2020-06-02T14:08:24Z No. of bitstreams: 0. Added 1 bitstream(s) on 2020-09-03T11:55:25Z : No. of bitstreams: 1 000489864600035.pdf: 348523 bytes, checksum: 1d49a70b3eb4e2544140a1c7446d5ba3 (MD5)en
dc.description.provenanceMade available in DSpace on 2020-06-02T14:08:24Z (GMT). No. of bitstreams: 0 Previous issue date: 2019en
dc.identifier.urihttp://repositorio.unicamp.br/jspui/handle/REPOSIP/342435-
dc.contributor.departmentsem informaçãopt_BR
dc.contributor.unidadeCentro de Hematologia e Hemoterapiapt_BR
dc.identifier.source000489864600035pt_BR
dc.creator.orcid0000-0002-3104-647Xpt_BR
dc.type.formArtigopt_BR
dc.description.sponsorNoteThis work was supported in part by a grant from the Agencia Nacional de Promoción Científica y Tecnológica (Project: PICT 2015‐2324), Argentina. Funding was also received from CONICET (Argentina) and FAPESP (Brazil)pt_BR
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