PMID- 33314756
OWN - NLM
STAT- MEDLINE
DCOM- 20210707
LR  - 20210707
IS  - 2059-2310 (Electronic)
IS  - 2059-2302 (Linking)
VI  - 97
IP  - 3
DP  - 2021 Mar
TI  - HLA-A, -B, -C, -DRB1 allele and haplotype frequencies of the Korean population 
      and performance characteristics of HLA typing by next-generation sequencing.
PG  - 188-197
LID - 10.1111/tan.14167 [doi]
AB  - INTRODUCTION: Human leukocyte antigen (HLA) identification at the allelic level 
      is important for haematopoietic stem cell transplantation (HSCT). Next-generation 
      sequencing (NGS) resolves ambiguous alleles by determining the phase of the 
      polymorphisms. The aim of this study was to validate the software for HLA-SBT 
      (sequence-based typing), assess Korean allele frequency, and characterise the 
      performance of NGS-HLA typing. METHODS: From the 2009 to 2016 registry, 1293 
      unrelated healthy donors with a complete dataset of previously characterised 
      HLA-A, -B, -C, and -DRB1 loci were selected and assessed for frequency, haplotype 
      inference, and relative linkage disequilibrium. For performance characteristics 
      of NGS-HLA, alleles included in 1293 cases and ambiguous or alleles assigned as 
      new by SBT-HLA software, or unassigned alleles were included. A total of 91 and 
      41 quality control samples resulted in 1056 alleles (132 samples x 4 loci x 2 
      diploid) for analysis. The GenDx NGSgo kit was used for NGS-HLA typing using the 
      Illumina MiSeq platform. RESULTS: A panel of 132 samples covered 231 alleles, 
      including 53 HLA-A, 80 HLA-B, 43 HLA-C, and 55 HLA-DRB1 by HLA-SBT typing. 
      Comparison of SBT-HLA and NGS-HLA typing showed 99.7% (1053/1056) concordance and 
      discrepant cases were resolved by manual evaluation. Typing by NGS resulted in 67 
      HLA-A, 112 HLA-B, 71 HLA-C, and 72 HLA-DRB1 alleles. A total of 132 ambiguous, 4 
      new, and 1 unassigned alleles by HLA-SBT were resolved by NGS-HLA typing. 
      CONCLUSIONS: NGS-HLA typing provided robust and conclusive results without 
      ambiguities, and its implementation could support HSCT in clinical settings.
CI  - (c) 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
FAU - Jekarl, Dong Wook
AU  - Jekarl DW
AUID- ORCID: 0000-0002-6269-5501
AD  - Department of Laboratory Medicine, College of Medicine, Seoul St. Mary's 
      Hospital, The Catholic University of Korea, Seoul, Republic of Korea.
AD  - Department of Laboratory Medicine, Seoul St. Mary's Hospital, The Catholic 
      University of Korea Seoul, Republic of Korea.
FAU - Lee, Gun Dong
AU  - Lee GD
AD  - Department of Laboratory Medicine, Seoul St. Mary's Hospital, The Catholic 
      University of Korea Seoul, Republic of Korea.
FAU - Yoo, Jae Bin
AU  - Yoo JB
AD  - Department of Laboratory Medicine, Seoul St. Mary's Hospital, The Catholic 
      University of Korea Seoul, Republic of Korea.
FAU - Kim, Jung Rok
AU  - Kim JR
AD  - Department of Laboratory Medicine, Eunpyeong St. Mary's Hospital, The Catholic 
      University of Korea, Seoul, Republic of Korea.
FAU - Yu, Haein
AU  - Yu H
AUID- ORCID: 0000-0001-9727-9201
AD  - Department of Laboratory Medicine, Seoul St. Mary's Hospital, The Catholic 
      University of Korea Seoul, Republic of Korea.
FAU - Yoo, Jaeeun
AU  - Yoo J
AD  - Department of Laboratory Medicine, College of Medicine, Incheon St. Mary's 
      Hospital, The Catholic University of Korea, Seoul, Republic of Korea.
FAU - Lim, Jihyang
AU  - Lim J
AD  - Department of Laboratory Medicine, College of Medicine, Eunpyeong St. Mary's 
      Hospital, The Catholic University of Korea, Seoul, Republic of Korea.
FAU - Kim, Myungshin
AU  - Kim M
AD  - Department of Laboratory Medicine, College of Medicine, Seoul St. Mary's 
      Hospital, The Catholic University of Korea, Seoul, Republic of Korea.
AD  - Department of Laboratory Medicine, Seoul St. Mary's Hospital, The Catholic 
      University of Korea Seoul, Republic of Korea.
AD  - Catholic Genetic Laboratory Center, College of Medicine, Seoul St. Mary's 
      Hospital, The Catholic University of Korea, Seoul, Republic of Korea.
FAU - Kim, Yonggoo
AU  - Kim Y
AD  - Department of Laboratory Medicine, College of Medicine, Seoul St. Mary's 
      Hospital, The Catholic University of Korea, Seoul, Republic of Korea.
AD  - Department of Laboratory Medicine, Seoul St. Mary's Hospital, The Catholic 
      University of Korea Seoul, Republic of Korea.
AD  - Catholic Genetic Laboratory Center, College of Medicine, Seoul St. Mary's 
      Hospital, The Catholic University of Korea, Seoul, Republic of Korea.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20210202
PL  - England
TA  - HLA
JT  - HLA
JID - 101675570
RN  - 0 (HLA-A Antigens)
RN  - 0 (HLA-B Antigens)
RN  - 0 (HLA-DRB1 Chains)
SB  - IM
MH  - Alleles
MH  - Gene Frequency
MH  - *HLA-A Antigens/genetics
MH  - HLA-B Antigens/genetics
MH  - HLA-DRB1 Chains/genetics
MH  - Haplotypes
MH  - *High-Throughput Nucleotide Sequencing
MH  - Histocompatibility Testing
MH  - Humans
MH  - Republic of Korea
OTO - NOTNLM
OT  - HLA
OT  - Korea
OT  - allele
OT  - frequency
OT  - next generation sequencing
EDAT- 2020/12/15 06:00
MHDA- 2021/07/08 06:00
CRDT- 2020/12/14 11:18
PHST- 2019/07/31 00:00 [received]
PHST- 2020/10/06 00:00 [revised]
PHST- 2020/12/07 00:00 [accepted]
PHST- 2020/12/15 06:00 [pubmed]
PHST- 2021/07/08 06:00 [medline]
PHST- 2020/12/14 11:18 [entrez]
AID - 10.1111/tan.14167 [doi]
PST - ppublish
SO  - HLA. 2021 Mar;97(3):188-197. doi: 10.1111/tan.14167. Epub 2021 Feb 2.