Resolution of Ambiguous HLA Genotyping in Korean by Multi-Group-Specific Sequence-Based Typing
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초록
Purpose: To evaluate a multi-group-specific sequence-based typing (SBT) method for resolving ambiguous results from human leukocyte antigen (HLA) genotyping. Materials and Methods: A total of 50 samples that showed ambiguous genotypes for at least two HLA loci from HLA-A, -B, -C and -DRB1 by the conventional SBT assay were evaluated using a new SBT test, the AVITA plus assay. The most likely HLA genotypes for the respective samples considering allele frequencies in Korean were concordant between the AVITA and conventional SBT assays. Results: An averageof 3.3 loci among the HLA-A, -B, -C and -DRB1 loci per sample gave results with two or more possible allele combinations with the conventional SBT, and 48 (96.0%) out of 50 showed reduced numbers of possible genotypes for at least one HLA locus with the AVITA. A total of 41, 43, 42, and 38 cases among the 50 samples showed ambiguous results for HLA-A, -B, -C, and -DRB1 typing by the conventional SBT, respectively. The average numbers of possible allele combinations for the respectivefour HLA loci were 8.2, 6.7, 5.9, and 3.2, and they were reduced to 1.5, 2.2, 4.4, and 1.8, respectively, by the AVITA. Ambiguity was resolved by the AVITA in 33 (80.5%), 31 (72.1%), 17 (40.5%) and 28 (73.7%) samples among the ambiguous cases from the conventional SBT for HLA-A, -B, -C, and -DRB1 typing, respectively. Conclusion: The multi-group-specific SBT method considerably reduced the numberof ambiguous results, and thus may be useful for accurate HLA typing in clinical laboratories.
Abstract
Purpose: To evaluate a multi-group-specific sequence-based typing (SBT) method for resolving ambiguous results from human leukocyte antigen (HLA) genotyping. Materials and Methods: A total of 50 samples that showed ambiguous genotypes for at least two HLA loci from HLA-A, -B, -C and -DRB1 by the conventional SBT assay were evaluated using a new SBT test, the AVITA plus assay. The most likely HLA genotypes for the respective samples considering allele frequencies in Korean were concordant between the AVITA and conventional SBT assays. Results: An averageof 3.3 loci among the HLA-A, -B, -C and -DRB1 loci per sample gave results with two or more possible allele combinations with the conventional SBT, and 48 (96.0%) out of 50 showed reduced numbers of possible genotypes for at least one HLA locus with the AVITA. A total of 41, 43, 42, and 38 cases among the 50 samples showed ambiguous results for HLA-A, -B, -C, and -DRB1 typing by the conventional SBT, respectively. The average numbers of possible allele combinations for the respectivefour HLA loci were 8.2, 6.7, 5.9, and 3.2, and they were reduced to 1.5, 2.2, 4.4, and 1.8, respectively, by the AVITA. Ambiguity was resolved by the AVITA in 33 (80.5%), 31 (72.1%), 17 (40.5%) and 28 (73.7%) samples among the ambiguous cases from the conventional SBT for HLA-A, -B, -C, and -DRB1 typing, respectively. Conclusion: The multi-group-specific SBT method considerably reduced the numberof ambiguous results, and thus may be useful for accurate HLA typing in clinical laboratories.
참고문헌 (20)
- Fry TJ, "Expanding options to improve outcomes following hematopoietic stem cell transplantation", Pediatr Blood Cancer, 55, pp.1043~1044 (2010)
- Shaw BE, "The impact of HLA genotyping on survival following unrelated donor haematopoietic stem cell transplantation", Br J Haematol, 150, pp.251~258 (2010)
- Harvey J, "Improved survival in matched unrelated donor transplant for childhood ALL since the introduction of high-resolution matching at HLA class I and II", Bone Marrow Transplant, 47, pp.1294~1300 (2012)
- Robinson J, "The IMGT", HLA database, 2013, pp.41(Database), D1222~D1227
- Cano P, "Common and well-documented HLA alleles: report of the Ad-Hoc committee of the american society for histocompatiblity and immunogenetics", Hum Immunol, 68, pp.392~417 (2007)
- Adams SD, "Ambiguous allele combinations in HLA Class I and Class II sequence-based typing: when precise nucleotide sequencing leads to imprecise allele identification", J Transl Med, 2, pp.30~ (2004)
- Nunes E, "Definitions of histocompatibility typing terms: Harmonization of Histocompatibility Typing Terms Working Group", Hum Immunol, 72, pp.1214~1216 (2011)
- Smith DM, "HLA class I null alleles and new alleles affect unrelated bone marrow donor searches", Tissue Antigens, 66, pp.93~98 (2005)
- Elsner HA, "Immunogenetics of HLA null alleles: implications for blood stem cell transplantation", Tissue Antigens, 64, pp.687~695 (2004)
- Kurz B, "New high resolution typing strategy for HLA-A locus alleles based on dye terminator sequencing of haplotypic group-specific PCR-amplicons of exon 2 and exon 3", Tissue Antigens, 53, pp.81~96 (1999)
- Dapprich J, "SNP-specific extraction of haplotype-resolved targeted genomic regions", Nucleic Acids Res, 36, pp.e94~ (2008)
- Perng CL, "Effectiveness and limitations of resolving HLA class I and class II by heterozygous ambiguity resolving primers (HARPs)--a modified technique of sequence-based typing (SBT)", Clin Biochem, 45, pp.1471~1478 (2012)
- Lind C, "Next-generation sequencing: the solution for high-resolution, unambiguous human leukocyte antigen typing", Hum Immunol, 71, pp.1033~1042 (2010)
- Gabriel C, "Rapid high-throughput human leukocyte antigen typing by massively parallel pyrosequencing for high-resolution allele identification", Hum Immunol, 70, pp.960~964 (2009)
- Erlich H, "HLA DNA typing: past, present, and future", Tissue Antigens, 80, pp.1~11 (2012)
- Gabriel C, "What Next? The Next Transit from Biology to Diagnostics: Next Generation Sequencing for Immunogenetics", Transfus Med Hemother, 38, pp.308~317 (2011)
- Shiina T, "Super high resolution for single molecule-sequence-based typing of classical HLA loci at the 8-digit level using next generation sequencers", Tissue Antigens, 80, pp.305~316 (2012)
- 정혜윤, "Allelic and Haplotypic Diversity of HLA-A, -B, -C, and -DRB1 Genes in Koreans Defined by High-resolution DNA Typing", Annals of Laboratory Medicine, 30(6), pp.685~696 (2010), 대한진단검사의학회
- Lee KW, "Allelic and haplotypic diversity of HLA-A, -B, -C, -DRB1, and -DQB1 genes in the Korean population", Tissue Antigens, 65, pp.437~447 (2005)
- Maiers M, "High-resolution HLA alleles and haplotypes in the United States population", Hum Immunol, 68, pp.779~788 (2007)