Journal of Interdisciplinary Genomics

유전의학융합회 (Interdisciplinary Society of Genetic & Genomic Medicine)
권호 표지
DOI QR코드

DOI QR Code

Clinical Application of ABO Genotyping: 10 Years' Experience in the Southeastern Korea

  • Sae Am Song (Department of Laboratory Medicine, Inje University College of Medicine) ;
  • Eun-Kyung Yu (Department of Laboratory Medicine, Inje University College of Medicine) ;
  • Seung Hwan Oh (Department of Laboratory Medicine, Pusan National University Yangsan Hospital, Pusan National University School of Medicine)
  • 투고 : 2024.04.18
  • 심사 : 2024.04.21
  • 발행 : 2024.04.30
PDF 다운로드
⟨ 이전 논문 다음 논문 ⟩

초록

Background: ABO typing is crucial for ensuring safe blood transfusion and is commonly performed by examining antigen-antibody interactions. Determining ABO blood group can be difficult when dealing with ABO discrepancy and ABO subgroups. ABO genotyping may be necessary to resolve ABO discrepancy. ABO genotyping primarily involves direct sequencing, with the possibility of using other molecular methods. Methods: PCR and direct sequencing of exons 6 and 7 were performed for total 108 samples from June 2010 to December 2019. Also, other molecular methods including cloning sequencing and short tandem repeat analysis were carried out just in case. Sequencing data were compared with allele information of blood group antigen mutation databases. Results: The predominant causal allele among 108 ABO discrepant cases was cis-AB01, with 28 cases. This was followed by rare ABO alleles (B309, B306, A204, Bw29, and Ax01) with 14 cases, and blood chimera with 5 cases. Five new alleles were identified during the investigation. Conclusion: This study reaffirms that cis-AB is the most common cause of inherited ABO discrepancies, and cis-AB01 is the most prevalent cis-AB allele in the Korean population, also in the southeastern region. In addition, we discovered five new alleles and five blood chimeras by adopting sequencing analysis and additional molecular techniques to resolve ABO discrepancies, which provide regional data on rare alleles. This study presents rare and new ABO alleles and blood chimeras identified over a ten-year period at two major university hospitals in Southeastern Korea.

키워드

과제정보

This research was supported by the National Research Foundation of Korea (NRF) grant funded by the Korea government (MSIT) (No. 2019R1G1A1010570).

참고문헌

  1. Flegel WA. ABO genotyping:the quest for clinical applications. Blood Transfus 2013;11:6-9. doi.org/10.2450/2012.0250-12.
  2. Cho D, Lee JS, Park JY, Jeon MJ, Song JW, Kim SH, et al. [Resolution of ABO Discrepancies by ABO Genotyping]. Korean J Lab Med 2006;26:107-13. doi.org/10.3343/kjlm.2006.26.2.107.
  3. Jung BK, Choi GR, Chang JH, Cho HN, Hyun JJ, Nam MH, et al. ABO*Ael03/OABO*Ael03/O genotype with ABO discrepancy:the first case in Korea. Ann Lab Med 2015;35:137-40. doi.org/10.3343/alm.2015.35.1.137.
  4. Kim N, Yu H, Lee J, Lee HS, Chung YN, Cho YG, et al. ABO* B3.01 Found in the A 1 B 3 Phenotype Showing ABO Discrepancy: The First Case in Korea. The Korean Journal of Blood Transfusion 2019;30:236-40. doi.org/10.17945/kjbt.2019.30.3.236.
  5. Luo H, Zhang R, Liao Z, Mo C, Wei L, Liang M, et al. [Correlation between special A/O genotype and the O phenotype]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019;36:275-7. doi.org/10.3760/cma.j.issn.1003-9406.2019.03.021.
  6. Yang HS, Shin JG, Yang JJ, Choi JC, Park TS, Lee JY, et al. ABO genotype-phenotype discrepancy due to chimerism resolved by clonal separation. Ann Hematol 2017;96:1583-5. doi.org/10.1007/s00277-017-3048-0.
  7. Lee OJ, Cho D, Shin MG, Kim SO, Park JT, Kim HK, et al. The first known case of blood group chimerism in monochorionic dizygotic twins in Korea. Ann Lab Med 2014;34:259-62. doi.org/10.3343/alm.2014.34.3.259.
  8. Lee HJ, Yoon SC, Ko JM, Seong MW, Park SS, Choi JS, et al. Monochorionic dizygotic twins with discordant sex and confined blood chimerism. Eur J Pediatr 2014;173:1249-52. doi.org/10.1007/s00431-014-2312-8.
  9. Chung YN, Chun S, Phan MT, Nam MH, Choi BM, Cho D, et al. The first case of congenital blood chimerism in two of the triplets in Korea. J Clin Lab Anal 2018;32:e22580. doi.org/10.1002/jcla.22580.
  10. Cho D, Lee SK, Yazer MH, Shin MG, Shin JH, Suh SP, et al. A dispermic chimera with mixed field blood group B and mosaic 46,XY/47,XYY karyotype. J Korean Med Sci 2007;22:553-6. doi.org/10.3346/jkms.2007.22.3.553.
  11. Olsson ML, Chester MA. Polymorphism and recombination events at the ABO locus:a major challenge for genomic ABO blood grouping strategies. Transfus Med 2001;11:295-313. doi.org/10.1046/j.1365-3148.2001.00320.x.
  12. Wu PC, Lin YH, Tsai LF, Chen MH, Chen PL, Pai SC. ABO genotyping with next-generation sequencing to resolve heterogeneity in donors with serology discrepancies. Transfusion 2018;58:2232-42. doi.org/10.1111/trf.14654.
  13. Lang K, Wagner I, Schone B, Schofl G, Birkner K, Hofmann JA, et al. ABO allele-level frequency estimation based on population- scale genotyping by next generation sequencing. BMC Genomics 2016;17:374. doi.org/10.1186/s12864-016-2687-1.
  14. Cho D, Lee S, Ryang D. ABO subgroup studies in Korea. ISBT Science Series 2015;10:332-5.
  15. Lee HW, Jeong IH, Seo JY, Jang JH, Cho D. Clinical application of ABO genotyping: 5-year experience from a single tertiary care center in Korea. The Korean Journal of Blood Transfusion 2023;34:12-20. doi.org/10.17945/kjbt.2023.34.1.12.
  16. Lee SJ, Chae S, Yoo J, Jekarl DW, Lee S, Kim M, et al. Various ABO genotyping-phenotyping results for ABO blood group discrepancy: a retrospective study. Laboratory Medicine Online 2023;13:97-102. doi.org/10.47429/lmo.2023.13.2.97.
  17. Olsson ML, Irshaid NM, Hosseini-Maaf B, Hellberg A, Moulds MK, Sareneva H, et al. Genomic analysis of clinical samples with serologic ABO blood grouping discrepancies: identification of 15 novel A and B subgroup alleles. Blood 2001;98:1585-93. doi.org/10.1182/blood.v98.5.1585.
  18. Patnaik SK, Helmberg W, Blumenfeld OO. BGMUT:NCBI dbRBC database of allelic variations of genes encoding antigens of blood group systems. Nucleic Acids Res 2012;40:D1023-9. doi.org/10.1093/nar/gkr958.
  19. Moller M, Joud M, Storry JR, Olsson ML. Erythrogene:a database for in-depth analysis of the extensive variation in 36 blood group systems in the 1000 Genomes Project. Blood Adv 2016;1:240-9. doi.org/10.1182/bloodadvances.2016001867.
  20. Kim HR, Shin JG, Song SA, Lee JY, Oh SH. A novel A allele with c.467C > T and c.784G > A nucleotide substitutions in Korean individuals. Transfusion 2020;60:E9-E10. doi.org/10.1111/trf.15758.
  21. Cho D, Shin MG, Yazer MH, Kee SJ, Shin JH, Suh SP, et al. The genetic and phenotypic basis of blood group A subtypes in Koreans. Transfus Med 2005;15:329-34. doi.org/10.1111/j.0958-7578.2005.00598.x.
  22. Gassner C, Olsson ML, Lane WJ, Hyland CA. Novel or not? Reference alleles, genes, and genomes to unmask the true nature of the ABO*AW.10 allele associated with weak A phenotype. Transfusion 2022;62:721-4. doi.org/10.1111/trf.16835.
  23. Kim HR, Shin JG, Song SA, Lee JY, Oh SH. In response to letter from Nam et al. Transfusion 2022;62:920-1. doi.org/10.1111/trf.16836.
  24. Nam M, Kim TY, Hur M, Cho D. A variant allele with c.467C>T and c.784G>A is not a novel allele but ABO*AW10. Transfusion 2022;62:918-20. doi.org/10.1111/trf.16678.
  25. Shin JG, Song SA, Jeong SY, Lee JY, Kim HR, Oh SH. Identification of a novel B allele with a missense mutation (c.721C>G) in a Korean family with a weak B phenotype. Transfusion 2017;57:2809-10. doi.org/10.1111/trf.14300.
  26. Lee SY, Phan MT, Shin DJ, Shin MG, Park JT, Shin JW, et al. A novel cis-AB variant allele arising from a de novo nucleotide substitution c.796A>G (p.M266V) in the B glycosyltransferase gene. Transfus Med 2015;25:333-6. doi.org/10.1111/tme.12229.
  27. Heo WY, Chung YN, Kim TY, Yu H, Bae JC, Kim H, et al. Analysis of ABO grouping discrepancies among patients from a tertiary hospital in Korea. Transfus Apher Sci 2021;60:103230. doi.org/10.1016/j.transci.2021.103230.
  28. Heo MS, Cho D, Park HR, Shin MG, Shin JH, Suh SP, et al. Analysis of ABO blood discrepancies and transfusion experiences in Chonnam National University Hospital. The Korean Journal of Blood Transfusion 2013;24:222-32.
  29. Chun S, Choi S, Yu H, Cho D. Cis-AB, the blood group of many faces, is a conundrum to the novice eye. Ann Lab Med 2019;39:115-20. doi.org/10.3343/alm.2019.39.2.115.
  30. Yoshida A, Yamaguchi H, Okubo Y. Genetic mechanism of cis- AB inheritance. I. A case associated with unequal chromosomal crossing over. Am J Hum Genet 1980;32:332-8.
  31. Park Y, Kim SY, Koo SH, Lim J, Kim JM, Lim YA, et al. Evaluation of the automated blood bank systems IH-500 and VISION Max for ABO-RhD blood typing and unexpected antibody screening. Laboratory Medicine Online 2017;7:170-5. doi.org/10.3343/lmo.2017.7.4.170.