Journal of Diagnostics Concepts & Practice ›› 2020, Vol. 19 ›› Issue (04): 364-369.doi: 10.16150/j.1671-2870.2020.04.008
• Original articles • Previous Articles Next Articles
LEI Hang1, FAN Liangfeng2, CAI Xiaohong1, WANG Yuqing1, LIU Xi2, JIN Sha2, SHEN Wei2, LU Qiong2, XIANG Dong2, WANG Xuefeng1, ZOU Wei1()
Received:
2020-03-11
Online:
2020-08-25
Published:
2022-07-15
Contact:
ZOU Wei
E-mail:zouwei1998@sina.com
CLC Number:
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.
编号 | 等位基因 | 关键核苷酸改变* | 个体(家系) | 血清型 | 基因型 |
---|---|---|---|---|---|
1 | A3.09 | c.1A>G | 2 | A3 | A3.09/O.01.01 |
2 | AW.31.01 | c.297A>G c.646T>A c.681G>A c.771C>T c.829G>A | 2 | AelB | AW.31.01/B.01 |
3 | A2.17 | c.407C>T | 2 | Ax | A2.17/O.01.02 |
4 | AW.38 | c.426G>C | 2 | Ax | AW.38/O.0102 |
5 | A2.08 | c.539G>C | 3 | AxB | A2.08/B.01 |
6 | AW.30 | c.565A>G | 2 | AmB | AW.30/B.01 |
7 | AW.31.02-05 | c.646T>A c.681G>A c.771C>T c.829G>A | 2 | Ax | AW.31.02-05/O.01.02 |
8 | AEL.02 | c.646T>A c.681G>A | 2 | Ael | AEL.02/O.01.01 |
9 | A3.07 | c.742C>T | 5 | Am, Ael, Ax,B | A3.07/O.01.01 |
10 | AEL.05 | c.767T>C | 2 | Ael | AEL.05/O.01.02 |
11 | cis-AB.01 | c.803G>C | 37 | A2Bx, ABx, A2B | cis-AB.01/O.01.01, cis-AB.01/O.01.02, cis-AB.01/B.01 |
12 | AEL.08 | c.804insG | 2 | Ael | AEL.08/O.01.02 |
13 | cis-AB01var | c.803G>C c.1009A>G | 2(1) | AxBx | cis-AB01var/O.01.01, cis-AB01var/B.01 |
14 | A2.05 | c.1009A>G | 15 | A2, Aint, A2B, AintB,Ax, Ael,AelB | A2.05/B.01, A2.05/O.01.01, A2.05/O.01.02 |
15 | A2.01 | c.1061delC | 7 | A2B,AxB | A2.01/B.01 |
16 | Avar-2 | c.700C>A | 2 | Ax | Avar-2/O.01.01 |
17 | Avar-4 | c.963insC | 2 | Ael | Avar-4/O.01.01 |
18 | Avar-5 | c.964G>A | 2 | Aend | Avar-5/O.01.01 |
19 | Avar-6 | c.106T>C | 2 | AxB | Avar-6/B.01 |
20 | B3.11 | 35_-18del | 12 | Bx, B3,AB3 | B3.11/O.01.01,A1.02/B3.11 |
21 | B3.10 | c.28G>A | 2 | Bend | B3.10/O.01.02 |
22 | B3.04 | c.247G>T | 2 | AB3 | A1.02/B3.04 |
23 | BW.12 | c.278C>T | 22 | Bx, Bm, ABx, ABm, AB3 | BW.12/O.01.01,BW.12/O.01.02,A1.01/BW.12 |
24 | B3.05 | c.425T>C | 18 | Bx,ABx,Bm | B3.05/O.01.01,A1.01/B3.05 |
25 | BEL.03 | c.502C>T | 3 | Bel | BEL.03/O.01.02 |
26 | BW.22 | c.503G>A | 2 | ABx | A1.02/BW.22 |
27 | cis-AB.06 | c.526G>C | 2 | AxB | cis-AB.06/O.01.01 |
28 | BW.19 | c.646T>A c.681G>A | 3 | ABx | A1.02/BW.19 |
29 | BW.11 | c.695T>C | 7 | Bx | BW.11/O.01.01,BW.11/O.01.02 |
30 | cis-AB.03 | c.700C>T | 2 | A2Bx | cis-AB.03/O.01.02 |
31 | BA.04 | c.640A>G | 96 | B(A) | BA.04/O.0101,BA.04/O.01.02,BA.04/B1.01 |
32 | BA.02 | c.700C>G | 44(2) | ABx,B(A) | A1.02/BA.02,BA.02/O.01.01BA.02/O.01.02, BA.02/B1.01 |
33 | BW.03 | c.721C>T | 25 | Bx,Bx,Bm | BW.03/O.01.01,A1.02/BW.03 |
34 | cis-AB.02 | c.796A>C | 5 | A2Bx,ABx | cis-AB.02/O.01.02, cis-AB.02/A1.02 |
35 | BA.06 | c.803C>G | 7 | AxB,B(A) | A1.02/BA.06,BA.06/O.01.01BA.06/O.01.02, BA.06/B1.01 |
36 | BW.34 | c.889G>A | 2 | ABx | BW.34/O.01.02 |
37 | BW.27 | c.905A>G | 17 | Bx | BW.27/O.01.01 |
38 | BW.07 | c.1055G>A | 5 | ABx | A1.02/BW.07 |
39 | Bvar-1 | c.523G>A c.746G>A | 7 | Bx | Bvar-1/O.01.01 |
40 | B3.02 | c.646T>A | 2 | AB3 | B3.02/A1.02 |
41 | Bvar-3 | c.664G>A | 5 | Bx,B3 | Bvar-3/O.01.01 |
42 | Bx11 | c.538C>T | 2 | ABw | A1.02/Bx11 |
[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.
doi: 10.1182/blood.v98.5.1585 pmid: 11520811 |
[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.
doi: 10.1111/j.1423-0410.2009.01291.x pmid: 20003128 |
[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.
doi: 10.1111/j.1537-2995.2012.03696.x URL |
[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.
doi: 10.1016/j.transci.2008.07.007 URL |
[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.
doi: 10.1111/j.1537-2995.2008.01878.x URL |
[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.
doi: 10.1182/bloodadvances.2016001867 URL |
[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.
doi: 10.1111/trf.13870 URL |
[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.
doi: 10.1371/journal.pone.0037272 URL |
[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.
doi: 10.1182/blood-2002-01-0188 URL |
[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.
doi: 10.1016/S0006-291X(05)81502-5 URL |
[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.
doi: 10.1159/000366108 URL |
[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.
pmid: 9800297 |
[19] |
Fonseca R, Bailey RJ, Ahmann GJ, et al. Genomic abnormalities in monoclonal gammopathy of undetermined significance[J]. Blood, 2002, 100(4):1417-1424.
pmid: 12149226 |
[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.
doi: 10.1074/jbc.M212002200 URL |
[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.
doi: 10.1111/j.1537-2995.2005.00170.x pmid: 15987364 |
[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.
doi: 10.1111/vox.12136 pmid: 24602004 |
[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.
doi: 10.1182/blood-2011-10-387167 pmid: 22408256 |
[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.
doi: 10.1111/vox.12229 pmid: 25557060 |
[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.
doi: 10.1111/trf.12181 pmid: 23560502 |
[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.
doi: 10.1038/ng858 URL |
[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.
doi: 10.1038/emboj.2009.397 URL |
[1] | HAO Xu, WANG Weiming. Fabry disease presenting with renal disease as the main manifestation diagnosed by renal biopsy: a case report [J]. Journal of Diagnostics Concepts & Practice, 2022, 21(04): 527-529. |
[2] | PENG Zhenping, XIANG Xixi, ZHANG Sujiang, LI Jiaming. Chronic neutrophilic leukemia with leukemia-like reaction as the first-onset manifestation: a report of 2 cases and literature review [J]. Journal of Diagnostics Concepts & Practice, 2020, 19(02): 122-128. |
[3] | CAI Rong, MIN Xuewen, CHEN Meirong, SHEN Yating, SHI Qunli, ZHOU Xiaodie. Expression of BRAF V600E (VE1) in thyroid papillary carcinoma and its clinical significance [J]. Journal of Diagnostics Concepts & Practice, 2018, 17(05): 552-556. |
[4] | WANG Dengfeng, CUI Wenyan, ZOU Wei, LI Fang, WANG Xuefeng, CAI Xiaohong. Molecular mechanism of Ax subtype caused by p.M142I mutation in alpha 1-3-N-acetylgalactosaminyltransferase [J]. Journal of Diagnostics Concepts & Practice, 2018, 17(03): 260-265. |
[5] | KONG Cunquan, HE Yi, LIAN Lixia, XU Shen, WANG Xuefeng, ZOU Wei, CAI Xiaohong. AxB blood group phenotype caused by ABO gene c.2T>C mutation and GTA aberrant translation [J]. Journal of Diagnostics Concepts & Practice, 2018, 17(02): 155-158. |
[6] | LU Jing, XU Yufei, QING Yanrong, HAN Cong, LI Niu, YU Tingting, YAO Ruen, WANG Jian. Concurrent gene mutation analysis of a developmental delayed child with Rett syndrome and Noonan syndrome [J]. Journal of Diagnostics Concepts & Practice, 2018, 17(02): 147-150. |
[7] | JIN Peipei, LIANG Qian, DAI Jing, DING Qiulan, SUN Shunchang, WANG Xuefeng. Phenotype and genotype analysis of a Chinese pedigree with 2N type von Willebrand disease [J]. Journal of Diagnostics Concepts & Practice, 2018, 17(02): 151-154. |
[8] | WANG Shu, ZHANG Yunxiang, SUI Jingni, LU Jing, FAN Huiyong, WANG Chao, CHEN Bing.. Analysis of additional mutation pattern accompanied with CEBPA mutations in patients with the cytogenetically normal acute myeloid leukemia [J]. Journal of Diagnostics Concepts & Practice, 2017, 16(05): 498-503. |
[9] | . [J]. Journal of Diagnostics Concepts & Practice, 2015, 14(03): 235-238. |
[10] | . [J]. Journal of Diagnostics Concepts & Practice, 2015, 14(01): 51-57. |
[11] | . [J]. Journal of Diagnostics Concepts & Practice, 2014, 13(01): 44-48. |
[12] | . [J]. Journal of Diagnostics Concepts & Practice, 2012, 11(03): 252-257. |
[13] | . [J]. Journal of Diagnostics Concepts & Practice, 2009, 8(06): 631-634. |
[14] | . [J]. Journal of Diagnostics Concepts & Practice, 2009, 8(03): 296-301. |
[15] | . [J]. Journal of Diagnostics Concepts & Practice, 2008, 7(05): 521-525. |
Viewed | ||||||
Full text |
|
|||||
Abstract |
|
|||||