دورية أكاديمية
Genetic diversity of Gerbich alleles in Brazilians reveals an unexpected prevalence of the GE:-2,-3,4 phenotype.
| العنوان: | Genetic diversity of Gerbich alleles in Brazilians reveals an unexpected prevalence of the GE:-2,-3,4 phenotype. |
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| المؤلفون: | Arnoni CP; Colsan - Associação Beneficente de Coleta de Sangue, São Paulo, SP, Brazil., Silva NM; Colsan - Associação Beneficente de Coleta de Sangue, São Paulo, SP, Brazil., Silva FS; Colsan - Associação Beneficente de Coleta de Sangue, São Paulo, SP, Brazil., Parreira RM; Colsan - Associação Beneficente de Coleta de Sangue, São Paulo, SP, Brazil., Vendrame T; Colsan - Associação Beneficente de Coleta de Sangue, São Paulo, SP, Brazil., Miola MP; Hemocentro - São José do Rio Preto, São Paulo, SP, Brazil., Muniz J; Hemocentro - São José do Rio Preto, São Paulo, SP, Brazil., Cortez A; Colsan - Associação Beneficente de Coleta de Sangue, São Paulo, SP, Brazil., Valvasori M; Grupo GSH, São Paulo, SP, Brazil., de Araujo EP; Grupo GSH, São Paulo, SP, Brazil., Dalmazzo L; Grupo GSH, São Paulo, SP, Brazil., Freitas A; Grupo GSH, São Paulo, SP, Brazil., Latini F; Colsan - Associação Beneficente de Coleta de Sangue, São Paulo, SP, Brazil., Castilho L; Hemocentro - Unicamp, Campinas, SP, Brazil. |
| المصدر: | Vox sanguinis [Vox Sang] 2023 Oct; Vol. 118 (10), pp. 873-880. Date of Electronic Publication: 2023 Aug 08. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Blackwell Science Country of Publication: England NLM ID: 0413606 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1423-0410 (Electronic) Linking ISSN: 00429007 NLM ISO Abbreviation: Vox Sang Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: 2001- : Oxford, UK : Blackwell Science Original Publication: Basel : Karger |
| مستخلص: | Background and Objectives: Gerbich (GE) blood group system carries high-frequency antigens and the absence of them leads to rare phenotypes: GE:-2,3,4, GE:-2,-3,4 and GE:-2,-3,-4. Their serological differentiation is limited and misclassification of Gerbich phenotypes may occur, but this can be avoided by molecular characterization. This study aimed to characterize the molecular background responsible for rare Gerbich phenotypes in Brazilian population. Materials and Methods: We selected eight samples from patients with anti-Ge, six from their relatives and nine samples with normal expression of Gerbich antigens. Serological tests were performed in gel and red blood cells (RBCs) were tested with anti-Ge2 and anti-Ge3. Monocyte monolayer assay (MMA) was performed. Molecular investigation was performed with allele-specific polymerase chain reaction and DNA sequencing. Results: Patient plasma samples reacted with all commercial RBCs. Patient RBCs showed negative results with anti-Ge2 and anti-Ge3. Using MMA two of eight antibodies were clinically significant. Exon 3 was not amplified in any of the patient samples and in two samples from relatives, suggesting the presence of GE*01.-03/GE*01.-03. By sequencing, we identified the genetic variability that interferes with the definition of deletion breakpoints, thus two options of genetic structure were suggested to be responsible for the GE:-2,-3,4 phenotype. Conclusion: This study showed for the first time the genetic diversity of GYPC alleles for carriers of Gerbich-negative phenotypes in a Brazilian population and showed an unexpected prevalence of the GE:-2,-3,4 phenotype. It also demonstrated the importance of using molecular tools to correctly classify Gerbich phenotypes for selection of variants in antigen-matched transfusions. (© 2023 International Society of Blood Transfusion.) |
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| فهرسة مساهمة: | Keywords: Brazilians; GYPC; Gerbich alleles; Gerbich genotype; Gerbich phenotype |
| تواريخ الأحداث: | Date Created: 20230808 Latest Revision: 20231014 |
| رمز التحديث: | 20231014 |
| DOI: | 10.1111/vox.13508 |
| PMID: | 37551744 |
| قاعدة البيانات: | MEDLINE |
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