HLA Haplotypes In 250 Families: The Baylor Laboratory Results And A Perspective On A Core NGS Testing Model For The 17th International HLA And Immunogenetics Workshop
| Autor: | Regina Spinnler, Nayera Hamdy, Ingrid Fae, Tamara Vayntrub, Katerina Tarassi, Marcelo Fernandez-Vina, Michael Halagan, Alexandra Tsirogianni, Bernd M. Spriewald, Medhat Askar, Maria Beatriz Rodriguez, Leah Zhrebker, Gideon Hönger, Gottfried Fischer, Karin Padros, Abeer Madbouly, Reem Ameen, Arthur Dunk, Shawna Kennedy, Ronald K. Charlton, Ghada I. Mossallam, Christian Bach, Salem Al Shemmari, Amanda Willis, Kazutoyo Osoegawa |
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| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Genetics Linkage disequilibrium Hla haplotypes Immunology Haplotype General Medicine Immunogenetics Human leukocyte antigen Biology Laboratory results DNA sequencing 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Immunology and Allergy Allele 030215 immunology |
| Zdroj: | Human Immunology. 80:897-905 |
| ISSN: | 0198-8859 |
| Popis: | Since their inception, the International HLA & Immunogenetics Workshops (IHIW) served as a collaborative platform for exchange of specimens, reference materials, experiences and best practices. In this report we present a subset of the results of human leukocyte antigen (HLA) haplotypes in families tested by next generation sequencing (NGS) under the 17th IHIW. We characterized 961 haplotypes in 921 subjects belonging to 250 families from 8 countries (Argentina, Austria, Egypt, Jamaica, Germany, Greece, Kuwait, and Switzerland). These samples were tested in a single core laboratory in a high throughput fashion using 6 different reagents/software platforms. Families tested included patients evaluated clinically as transplant recipients (kidney and hematopoietic cell transplant) and their respective family members. We identified 486 HLA alleles at the following loci HLA-A, -B, -C, -DRB1, -DRB3, -DRB4, -DRB5, -DQA1, -DQB1, -DPA1, -DPB1 (77, 115, 68, 69, 10, 6, 4, 44, 31, 20 and 42 alleles, respectively). We also identified nine novel alleles with polymorphisms in coding regions. This approach of testing samples from multiple laboratories across the world in different stages of technology implementation in a single core laboratory may be useful for future international workshops. Although data presented may not be reflective of allele and haplotype frequencies in the countries to which the families belong, they represent an extensive collection of 3rd and 4th field resolution level 11-locus haplotype associations of 486 alleles identified in families from 8 countries. |
| Databáze: | OpenAIRE |
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