Journal of Diagnostics Concepts & Practice >

2020 , Vol. 19 >Issue 04: 364 - 369

DOI: https://doi.org/10.16150/j.1671-2870.2020.04.008

Original articles

The study on molecular basis of ABO blood subgroups in the Chinese population

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  • 1. Blood Transfusion Department, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China
    2. Blood Group Reference Laboratory, Shanghai Blood Centre, Shanghai 200051, China

Received date: 2020-03-11

  Online published: 2022-07-15

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Abstract

Objective: To explore distribution and molecular basis of ABO blood subgroups in Chinese population by analyzing phenotype-genotype correlations of ABO subgroups. Methods: Phenotype investigations were performed using serology studies in 1 545 505 blood donors and 116 209 blood recipients enrolled from April 2014 to June 2019, and the DNA sequence of the ABO gene was analyzed by direct sequencing or sequencing after cloning. Results: Serologic typing revealed that ABO subgroup were detected in 617 individuals, with an overall incidence of 3.71/10 000. Subgroup B(A) showed the highest detection rate(0.066‰), and was followed by B3(0.045‰) and Bx (0.039‰). A total of 42 ABO subgroup alleles were identified in 544 individuals by direct sequencing. According to the results of sequencing, ABO*BA.04 was the most common allele, with a constituent ratio of 25.20%, and then ABO*BA.02(11.55%) and ABO*cis-AB.01(9.71%). Correlation analysis revealed that corresponding phenotype of ABO subgroup alleles might differ from result of first testing, which meant a certain genotype could show multiple different phenotypes. Conclusions: Incidence of ABO blood subgroups in Chinese population is 3.71/10 000. B(A) subgroup is the most common in Chinese population and followed by B3 and Bx related subgroups. The common subgroup alleles are ABO*BA.04,BA.02 and cis-AB.01.

Key words： ABO subgroup; Gene mutation; Allele

Cite this article

LEI Hang, FAN Liangfeng, CAI Xiaohong, WANG Yuqing, LIU Xi, JIN Sha, SHEN Wei, LU Qiong, XIANG Dong, WANG Xuefeng, ZOU Wei . The study on molecular basis of ABO blood subgroups in the Chinese population[J]. Journal of Diagnostics Concepts & Practice, 2020 , 19(04) : 364 -369 . DOI: 10.16150/j.1671-2870.2020.04.008

References

[1] Daniels G. Human blood groups[M]. 3rd ed. Oxford: Blackwell, Science, 2013.
[2] Fung MK, Eder AF, Spitalnik S, et al. AABB technical manual[M]. 19th ed. Bethesda (MD): American Association of Blood Banks, 2017:785-786.
[3] Olsson ML, Irshaid NM, Hosseini-Maaf B, et al. Genomic analysis of clinical samples with serologic ABO blood grouping discrepancies: identification of 15 novel A and B subgroup alleles[J]. Blood, 2001, 98(5):1585-1593.
[4] Zhu F, Tao S, Xu X, et al. Distribution of ABO blood group allele and identification of three novel alleles in the Chinese Han population[J]. Vox Sang, 2010, 98(4):554-559.
[5] Jaben EA, Jacob EK, Tauscher C, et al. Clinically signifi-cant anti-A(1) in a presumed ABO-identical hematopoie-tic stem cell transplant recipient: a case report[J]. Transfusion, 2013, 53(1):202-205.
[6] Deng ZH, Seltsam A, Ye YW, et al. Haemolytic disease of fetus and newborn caused by ABO antibodies in a cisAB offspring[J]. Transfus Apher Sci, 2008, 39(2):123-128.
[7] Fung MK, Eder AF, Spitalnik S, et al. AABB technical manual[M]. 19th Ed. Bethesda (MD): American Association of Blood Banks, 2017:777-778.
[8] 向东. ABO亚型的检测[J]. 中国输血杂志, 2010, 23(8):577-580.
[9] Cai XH, Jin S, Liu X, et al. Molecular genetic analysis for the B subgroup revealing two novel alleles in the ABO gene[J]. Transfusion, 2008, 48(11):2442-2447.
[10] 向东, 刘曦, 郭忠慧, 等. 上海地区中国人群中ABO亚型的研究[J]. 中国输血杂志, 2006, 19(1):25-26.
[11] 金沙, 蔡晓红, 刘曦, 等. 上海地区献血人群cisAB和B(A)血型的研究[J]. 中国输血杂志, 2013, 26(12):1198-1201.
[12] Möller M, Jöud M, Storry JR, et al. Erythrogene: a database for in-depth analysis of the extensive variation in 36 blood group systems in the 1000 genomes project[J]. Blood Adv, 2016, 1(3):240-249.
[13] Ying Y, Chen S, Ma K, et al. Identification of a novel B allele with missense mutation (c.98G>C) in the ABO gene[J]. Transfusion, 2017, 57(1):219-220.
[14] Chen DP, Tseng CP, Wang WT, et al. Genetic and mecha-nistic evaluation for the mixed-field agglutination in B3blood type with IVS3+5G>A ABO gene mutation[J]. PLoS One, 2012, 7(5):e37272.
[15] Yu LC, Twu YC, Chou ML, et al. Molecular genetic analy-sis for the B(3) allele[J]. Blood, 2002, 100(4):1490-1492.
[16] Yamamoto F, McNeill PD, Hakomori S. Human histo-blood group A2 transferase coded by A2 allele, one of the A subtypes, is characterized by a single base deletion in the coding sequence, which results in an additional domain at the carboxyl terminal[J]. Biochem Biophys Res Commun, 1992, 187(1):366-374.
[17] Patnaik SK, Helmberg W, Blumenfeld OO. BGMUT database of allelic variants of genes encoding human blood group antigens[J]. Transfus Med Hemother, 2014, 41(5):346-351.
[18] Olsson ML, Chester MA. Heterogeneity of the blood group Ax allele: Genetic recombination of common alleles can result in the Ax phenotype[J]. Transfus Med, 1998, 8(3):231-238.
[19] Fonseca R, Bailey RJ, Ahmann GJ, et al. Genomic abnormalities in monoclonal gammopathy of undetermined significance[J]. Blood, 2002, 100(4):1417-1424.
[20] Marcus SL, Polakowski R, Seto NO, et al. A single point mutation reverses the donor specificity of human blood group B-synthesizing galactosyltransferase[J]. J Biol Chem, 2003, 278(14):12403-12405.
[21] Yazer MH, Denomme GA, Rose NL, et al. Amino-acid substitution in the disordered loop of blood group B-glycosyltransferase enzyme causes weak B phenotype[J]. Transfusion, 2005, 45(7):1178-1182.
[22] Takahashi Y, Isa K, Sano R, et al. Presence of nucleotide substitutions in transcriptional regulatory elements such as the erythroid cell-specific enhancer-like element and the ABO promoter in individuals with phenotypes A3 and B3, respectively[J]. Vox Sang, 2014, 107(2):171-180.
[23] Cai X, Jin S, Liu X, et al. Molecular genetic analysis of ABO blood group variations reveals 29 novel ABO subgroup alleles[J]. Transfusion, 2013, 53(11 Suppl 2):2910-2916.
[24] Sano R, Nakajima T, Takahashi K, et al. Expression of ABO blood-group genes is dependent upon an erythroid cell-specific regulatory element that is deleted in persons with the B(m) phenotype[J]. Blood, 2012, 119(22):5301-5310.
[25] Oda A, Isa K, Ogasawara K, et al. A novel mutation of the GATA site in the erythroid cell-specific regulatory ele-ment of the ABO gene in a blood donor with the Am B phenotype[J]. Vox Sang, 2015, 108(4):425-427.
[26] Nakajima T, Sano R, Takahashi Y, et al. Mutation of the GATA site in the erythroid cell-specific regulatory element of the ABO gene in a Bm subgroup individual[J]. Transfusion, 2013, 53(11 Suppl 2):2917-2927.
[27] Pagani F, Buratti E, Stuani C, et al. A new type of mutation causes a splicing defect in ATM[J]. Nat Genet, 2002, 30(4):426-429.
[28] Dhir A, Buratti E, van Santen MA, et al. The intronic splicing code: Multiple factors involved in ATM pseudoexon definition[J]. EMBO J, 2010, 29(4):749-760.
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