Weak D types 38 and 11: determination of frequencies in a Brazilian population and validation of an easy molecular assay for detection
| Autor: | Marina C. A. V. Conrado, Vanderson Rocha, Marcia Regina Dezan, Fabio Luz, Theo G M Oliveira, V.B. Oliveira, Ester Cerdeira Sabino, Carla Luana Dinardo, Antonio Gallucci, Alfredo Mendrone |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Genetics
Validation study education.field_of_study Rh-Hr Blood-Group System Genotype Population Blood Donors Hematology General Medicine Biology European descent Medical Laboratory Technology Phenotype Gene Frequency Weak D phenotype Immunology and Allergy Humans Brazilian population Allele education Allele frequency Alleles Brazil |
| Zdroj: | Immunohematology. 36(2) |
| ISSN: | 0894-203X |
| Popis: | Recent evidence shows that, among Brazilians, the distribution of weak D types significantly differs from that represented in people of European descent, with a high percentage of weak D types 38 and 11. Our goal was to determine the population frequencies of weak D types 38 and 11 in a Brazilian population and to validate a molecular approach to identify these two variants. Blood donors were sequentially enrolled in the study in a 5-year period. Donors with serologic weak D phenotype had the RHD coding region sequenced. The frequencies of weak D type 38 and weak D type 11 (CDe-associated) were calculated. Two allele-specific– polymerase chain reaction (AS-PCR) assays were designed to detect RHD*weak D type 38 and RHD*weak partial 11 and were validated with samples positive and negative for these two variants, respectively. A total of 618,542 donors were enrolled, of which 265 presented with a serologic weak D phenotype. When considering all donors evaluated, the frequencies of weak D types 38 and 11 were 0.013 and 0.002 percent, respectively. In the subgroup of donors with a serologic weak D phenotype, the frequencies of weak D types 38 and 11 were 30.2 and 4.9 percent, respectively. The two proposed AS-PCR assays for detection of RHD*weak D type 38 and RHD*weak partial 11 showed 100 percent accuracy. The frequencies of weak D types 38 and 11 among Brazilians are high compared to that previously described for other populations. The AS-PCR assays to detect RHD*weak D type 38 and RHD*weak partial 11 represent potentially helpful tools for investigating Brazilian individuals with these weak D phenotypes. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|