Molecular Basis of KELnull Phenotype in Brazilians
| Autor: | Mihoko Yamamoto, José Orlando Bordin, Edmir Boturão-Neto, Sérgio Roberto Lopes Albuquerque, Maria do Carmo Valgueiro Costa de Oliveira, Mércia Maria Alves Nunes, Marcos Daniel de Deus Santos, Akemi Kuroda Chiba, Elisa Yuriko Sugano Kimura, Cláudia Lumack do Monte Barretto |
|---|---|
| Rok vydání: | 2014 |
| Předmět: | |
| Zdroj: | Transfusion Medicine and Hemotherapy. 42:52-58 |
| ISSN: | 1660-3818 1660-3796 |
| Popis: | Background: KELnull (K₀) persons can produce clinically significant anti-KEL5 antibody after transfusion and/or pregnancy, requiring K₀ blood transfusion when indicated. 37 K₀ alleles have been reported in studies over different populations, but none in Amerindian-Caucasian descendants from South America. The aim of this study was to identify the molecular basis of K₀ phenotype in Brazilians. Methods: We investigated three K₀ samples from different Brazilian blood banks (Recife, Manaus, and Vila Velha) in women with anti-KEL5. KEL antigen typing was performed by serologic techniques, and the K₀ status was confirmed by flow cytometry. PCR-RFLP and DNA sequencing of the KEL coding and exon-intron regions were also performed. Results: RBCs of the 3 patients were phenotyped as KEL:-1,-2,-3,-4,-7. The 3 patients had the same KEL*02/02 genotype and were negative for KEL*02.03 and KEL*02.06 alleles. The Recife K₀ patient was homozygous for IVS16 + 1g>a mutation (KEL*02N.31 allele). The flow cytometry with anti-KEL1, anti-KEL2, anti-KEL3, anti-KEL4, and anti-CD238 confirmed the K₀ phenotype. In addition, we found the c.1042C>T mutation (KEL*02N.04 allele) in both the Manaus K₀ and the Vila Velha K₀ patients. Conclusion: This report represents the first study of K₀ molecular basis performed in Amerindian-Caucasian descendants from South America. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|