Uncommon HLA alleles identified by hemizygous ultra-high Sanger sequencing: haplotype associations and reconsideration of their assignment in the Common and Well-Documented catalogue
| Autor: | Marcel G.J. Tilanus, Lisette Groeneveld, Christina E.M. Voorter, Mathijs Groeneweg |
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| Přispěvatelé: | RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, MUMC+: DA TI Staf (9), Ondersteunend personeel CD, Interne Geneeskunde, MUMC+: DA Transplantatie Immunologie (5) |
| Rok vydání: | 2015 |
| Předmět: |
0301 basic medicine
Hemizygous sequencing Genotype Immunology Fixed allele Common and Well-Documented allele Human leukocyte antigen Biology 03 medical and health sciences symbols.namesake 0302 clinical medicine Gene Frequency HLA Antigens Immunology and Allergy Humans Allele Allele frequency Alleles Rare allele Sanger sequencing Genetics Hemizygote Polymorphism Genetic Histocompatibility Testing Haplotype General Medicine Sequence Analysis DNA Human Leukocyte Antigen Full length sequencing Minor allele frequency 030104 developmental biology Haplotypes symbols 030215 immunology |
| Zdroj: | Human Immunology, 77(2), 184-190. Elsevier Science |
| ISSN: | 1879-1166 0198-8859 |
| Popis: | Although the number of HLA alleles still increases, many of them have been reported being uncommon. This is partly due to lack of full length gene sequencing, especially for those alleles belonging to an allele ambiguity in which the first discovered allele has been assigned as the most frequent one. As members of the working group on Common and Well Documented (CWD) alleles and since we implemented full length group-specific sequencing as standard method routinely, we have investigated the presence of presumably rare alleles in our collection of HLA typing data. We identified 50 alleles, that were not previously encountered as Common or Well Documented. Sixteen of them should be added to the CWD catalogue, since we encountered them in 5 or more unrelated individuals. Another 11 could be added, based upon our results and the data present in the IMGT database and the rare allele section of the allele frequencies database. Furthermore, tight associations were observed between several different alleles even at the level of synonymous and non-coding sequences. In addition, in several cases the uncommon allele was found to be more frequent than its common counterpart. |
| Databáze: | OpenAIRE |
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