Frequency and characterization of known and novel RHD variant alleles in 37 782 Dutch D-negative pregnant women
| Autor: | Tamara C. Stegmann, C. Ellen van der Schoot, Peter C. Ligthart, Renate Bijman, Masja de Haas, Florentine F. Thurik, Bernadette Bossers, Goedele Cheroutre, Remco Jonkers, Lonneke Haer-Wigman, Barbera Veldhuisen |
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| Přispěvatelé: | Other departments, Landsteiner Laboratory, Clinical Haematology |
| Rok vydání: | 2016 |
| Předmět: |
Genotype
Rho(D) Immune Globulin 030204 cardiovascular system & hematology Biology Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12] Serology 03 medical and health sciences 0302 clinical medicine Gene Frequency Pregnancy Missense mutation Humans Allele Genotyping Alleles Netherlands Genetics Rh-Hr Blood-Group System Genetic Variation Promoter Hematology Null allele Phenotype Fetal Diseases Mutation Female Rh blood group system 030215 immunology |
| Zdroj: | British Journal of Haematology, 173, 469-79 British journal of haematology, 173(3), 469-479. Wiley-Blackwell British Journal of Haematology, 173, 3, pp. 469-79 |
| ISSN: | 0007-1048 |
| Popis: | Contains fulltext : 167810.pdf (Publisher’s version ) (Open Access) To guide anti-D prophylaxis, Dutch D- pregnant women are offered a quantitative fetal-RHD-genotyping assay to determine the RHD status of their fetus. This allowed us to determine the frequency of different maternal RHD variants in 37 782 serologically D- pregnant women. A variant allele is present in at least 0.96% of Dutch D- pregnant women The D- serology could be confirmed after further serological testing in only 54% of these women, which emphasizes the potential relevance of genotyping of blood donors. 43 different RHD variant alleles were detected, including 15 novel alleles (11 null-, 2 partial D- and 2 DEL-alleles). Of those novel null alleles, one allele contained a single missense mutation (RHD*443C>G) and one allele had a single amino acid deletion (RHD*424_426del). The D- phenotype was confirmed by transduction of human D- erythroblasts, consolidating that, for the first time, a single amino acid change or deletion causes the D- phenotype. Transduction also confirmed the phenotypes for the two new variant DEL-alleles (RHD*721A>C and RHD*884T>C) and the novel partial RHD*492C>A allele. Notably, in three additional cases the DEL phenotype was observed but sequencing of the coding sequence, flanking introns and promoter region revealed an apparently wild-type RHD allele without mutations. |
| Databáze: | OpenAIRE |
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