دورية أكاديمية
An accurate genetic assay to identify human neutrophil antigen 2 deficiency.
| العنوان: | An accurate genetic assay to identify human neutrophil antigen 2 deficiency. |
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| المؤلفون: | Li Y; Department of Veterinary and Biomedical Sciences, University of Minnesota, St. Paul, Minnesota, USA., Schuller RM; American Red Cross, North Central Blood Services, National Neutrophil Reference Laboratory, St. Paul, Minnesota, USA., Wu J; Department of Veterinary and Biomedical Sciences, University of Minnesota, St. Paul, Minnesota, USA. |
| المصدر: | Transfusion medicine (Oxford, England) [Transfus Med] 2023 Feb; Vol. 33 (1), pp. 68-74. Date of Electronic Publication: 2022 Oct 29. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 9301182 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-3148 (Electronic) Linking ISSN: 09587578 NLM ISO Abbreviation: Transfus Med Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Oxford ; Boston : Blackwell Scientific Publications, |
| مواضيع طبية MeSH: | Neutrophils* , Isoantigens*/genetics, Humans ; Reproducibility of Results ; Genotype ; Homozygote |
| مستخلص: | Objective: We aimed to develop accurate and user-friendly genetic assays to identify the inherited neutrophil antigen-2 (HNA-2) deficiency in humans. Background: HNA-2 is one of the most important neutrophil antigens implicated in a number of human disorders. HNA-2 deficiency or HNA-2 null is a common phenotype observed in 3%-5% Americans. HNA-2 null individuals are at risk to produce isoantibodies (or alloantibodies) that play important roles in transfusion-related acute lung injury, immune neutropenia, and bone marrow graft failure. We previously demonstrated that the CD177 coding SNP 787A > T (c.787A > T) is the most important genetic determinant for HNA-2 deficiency. However, reliable genetic assays are not available for routine clinical laboratory application up to now. Study Design and Methods: A novel polymerase chain reaction (PCR) strategy was used to determine genotypes of the CD177 SNP c.787A > T. In the simplified PCR assay, all allele specific primers and internal control primers were included in the same reaction, which ensures reliability of the assay. In addition, a novel high-throughput nested TaqMan assay was developed to determine genotypes of c.787A > T for large population genetic analysis of HNA-2 deficiency. Results: CD177 SNP c787A > T genotypes of 396 subjects were 100% concordant among the single PCR reaction method, the nested TaqMan assay, and Sanger Sequencing analysis. Out of 396 subjects, all 18 donors with the CD177 STP homozygous genotype were HNA-2 null. Conclusion: The novel PCR-based genotyping assay is accurate to identify HNA-2 deficient individuals and is suitable for clinical laboratories. In addition, the innovative high-throughput nested TaqMan assay will be useful for large-scale population screens and genetic studies of HNA-2 deficiency. (© 2022 The Authors. Transfusion Medicine published by John Wiley & Sons Ltd on behalf of British Blood Transfusion Society.) |
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| معلومات مُعتمدة: | R21 AI149395 United States AI NIAID NIH HHS; R21AI149395 National Institute of Health |
| فهرسة مساهمة: | Keywords: CD177; HNA-2 deficiency; genetic assay; polymorphisms |
| المشرفين على المادة: | 0 (Isoantigens) |
| تواريخ الأحداث: | Date Created: 20221029 Date Completed: 20230224 Latest Revision: 20240202 |
| رمز التحديث: | 20240202 |
| مُعرف محوري في PubMed: | PMC9974537 |
| DOI: | 10.1111/tme.12936 |
| PMID: | 36308061 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1365-3148 |
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| DOI: | 10.1111/tme.12936 |