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Resolution of Ambiguous HLA Genotyping in Korean by Multi-Group-Specific Sequence-Based Typing

 Yongjung Park  ;  Cha Eun Yoon  ;  Oh-Joong Kwon  ;  Yu-Seun Kim  ;  Hyon-Suk Kim 
 YONSEI MEDICAL JOURNAL, Vol.55(4) : 1005-1013, 2014 
Journal Title
Issue Date
Asian Continental Ancestry Group/genetics ; Base Sequence ; Gene Frequency/genetics ; Genotype ; HLA Antigens/genetics* ; Histocompatibility Testing ; Humans ; Polymerase Chain Reaction
Human leukocyte antigen ; ambiguity ; high resolution ; multi-group-specific PCR ; sequence-based typing
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 average of 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 respective four 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 number of ambiguous results, and thus may be useful for accurate HLA typing in clinical laboratories.
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1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Surgery (외과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Yu Seun(김유선) ORCID logo https://orcid.org/0000-0002-5105-1567
Kim, Hyon Suk(김현숙) ORCID logo https://orcid.org/0000-0001-5662-7740
Park, Yong Jung(박용정) ORCID logo https://orcid.org/0000-0001-5668-4120
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