Back to Search
Start Over
Next generation sequencing characterizes the extent of HLA diversity in an Argentinian registry population
- Source :
- HLA. 91:175-186
- Publication Year :
- 2018
- Publisher :
- Wiley, 2018.
-
Abstract
- Next generation DNA sequencing is used to determine the HLA-A, -B, -C, -DRB1, and -DQB1 assignments of 1472 unrelated volunteers for the unrelated donor registry in Argentina. The analysis characterized all HLA exons and introns for class I alleles; at least exons 2, 3 for HLA-DRB1; and exons 2 to 6 for HLA-DQB1. Of the distinct alleles present, there are 330 class I and 98 class II. The majority (~98%) of the cumulative allele frequency at each locus is contributed by alleles that appear at a frequency of at least 1 in 1000. Fourteen (18.2%) of the 77 novel class I and II alleles carry nonsynonymous variation within their exons; 52 (75.4%) class I novel alleles carry only single, apparently random, nucleotide variation within their introns/untranslated regions. Alleles encoding protein variation not usually detected by typing focused only on the exons encoding the antigen recognition domain are 1.0% of the class I assignments and 7.3% of the class II assignments (predominantly DQB1*02:02:01, DQB1*03:19:01, and DRB1*14:54:01). Updates to the common and well documented list of alleles include 10 alleles previously thought to be uncommon but that are found at least 30 times. Five locus haplotypes estimated using the expectation-maximization algorithm as present 3 or more times total 187. While the known HLA diversity continues to increase, the conservation of known allele sequences is remarkable. Overall, the HLA diversity observed in the Argentinian population reflects its European and Native American ancestry.
- Subjects :
- 0301 basic medicine
Nonsynonymous substitution
Sequence analysis
Immunology
Population
Argentina
Locus (genetics)
Human leukocyte antigen
Biology
03 medical and health sciences
0302 clinical medicine
Gene Frequency
HLA Antigens
Genetics
Humans
Immunology and Allergy
Registries
Allele
education
Allele frequency
Alleles
education.field_of_study
Base Sequence
Haplotype
Genetic Variation
High-Throughput Nucleotide Sequencing
Exons
Introns
030104 developmental biology
Haplotypes
Genetic Loci
030215 immunology
Subjects
Details
- ISSN :
- 20592310 and 20592302
- Volume :
- 91
- Database :
- OpenAIRE
- Journal :
- HLA
- Accession number :
- edsair.doi.dedup.....e03b47f4dceb8512e3cf78eb2cbd241e