临床输血与检验 ›› 2022, Vol. 24 ›› Issue (2): 137-141.DOI: 10.3969/j.issn.1671-2587.2022.02.001
• 红细胞血型专题 • 下一篇
杨东, 陈青
收稿日期:
2021-09-29
发布日期:
2022-04-12
通讯作者:
陈青,女,研究员,博士,硕士生导师,主要从事输血医学研究工作,(E-mail)chenqing90@yahoo.com。
作者简介:
杨东(1994-),男,吉林延边人,学士,主要从事公共卫生与预防医学方面研究,(E-mail)1105522138@qq.com。
基金资助:
Received:
2021-09-29
Published:
2022-04-12
摘要: 血型研究在安全输血、胎儿和新生儿溶血性疾病、器官移植等方面具有重要临床意义。随着下一代基因组测序技术的迅猛发展,仅2020年就有5个新的红细胞血型系统得到正式命名,本文主要围绕CTL2(ISBT 039)、PEL(ISBT 040)、MAM(ISBT 041)、EMM(ISBT 042)、ABCC1(ISBT 043)这5个血型系统的研究进展进行综述。
中图分类号:
杨东, 陈青. 红细胞血型系统研究新进展*[J]. 临床输血与检验, 2022, 24(2): 137-141.
[1] STORRY J R,JÖUD M,CHRISTOPHERSEN M K,et al. Homozygosity for a null allele of SMIM1 defines the Vel-negative blood group phenotype[J]. Nat Genet,2013,45(5):537-541. [2] STORRY J R,CLAUSEN F B,CASTILHO L,et al.International society of blood transfusion working party on red cell immunogenetics and blood group terminology:report of the Dubai,Copenhagen and Toronto meetings[J]. Vox Sang,2019,114(1):95-102. [3] DANIELS G,BALLIF B A,HELIAS V,et al.Lack of the nucleoside transporter ENT1 results in the Augustine-null blood type and ectopic mineralization[J]. Blood,2015,125(23):3651-3654. [4] VRIGNAUD C, MIKDAR M, KOEHL B, et al.Alloantibodies directed to the SLC44A2/CTL2 transporter define two new red cell antigens and a novel human blood group system[J]. Transfusion, 2019, 59(suppl. s3): 18A. [5] NAIR T S,KOZMA KE,HOEFLING NL,et al.Identification and characterization of choli ne transporter-like protein 2,an inner ear glycoprotein of 68 and 72 kDa that is the target of antibody-induced hearing loss[J]. J Neurosci,2004,24(7):1772-1779. [6] KLEINMAN S, CAULFIELD T, CHAN P, et al.Toward an understanding of transfusion-related acute lung injury: statement of a consensus panel[J]. Transfusion, 2004, 44(12): 1774-1789. [7] FLESCH B K,WESCHE J,BERTHOLD T,et al.Expression of the CTL2 transcript variants in human peripheral blood cells and human tissues[J]. Transfusion,2013,53(12):3217-3223. [8] GREINACHER A,WESCHE J,HAMMER E,et al.Characterization of the human neutrophil alloantigen-3a[J]. Nat Med,2010,16(1):45-48. [9] KOMMAREDDI P,NAIR T,KAKARAPARTHI B N,et al.Hair cell loss,spiral ganglion degeneration,and progressive sensorineural hearing loss in mice with targeted deletion of SLC44A2/Ctl2[J]. J Assoc Res Otolaryngol,2015,16(6):695-712. [10] ALLEN B J,MASTRANGELO Michael A,TURE Sara K,et al.The choline transporter SLC44A2 controls platelet activation and thrombosis by regulating mitochondrial function[J]. Nat Commun,2020,11(1):3479. [11] DANIELS G L,SIMARD H,GOLDMAN M,et al.PEL,a 'new' high-frequency red cell surface antigen[J]. Vox Sang,1996,70(1):31-33. [12] AZOUZI S,MIKDAR M,HERMAND P,et al.Lack of the multidrug transporter MRP4/ABCC4 defines the PEL-negative blood group and impairs platelet aggregation[J]. Blood,2020,135(6):441-448. [13] GENOMES PROJECT CONSORTIUM 1 0 0 0,AUTON A,BROOKS L D,et al. A global reference for human genetic variation[J]. Nature,2015,526(7571):68-74. [14] SCHUETZ J D.“OMICs” reveal the molecular basis of a rare blood group[J]. Blood,2020,135(6):396-397. [15] LOW F G,SHABIR K,BROWN J E,et al.Roles of ABCC1 and ABCC4 in proliferation and migration of breast cancer cell lines[J]. Int J Mol Sci,2020,21(20):7664. [16] CHEEPALA S B,PITRE A,FUKUDA Y,et al.The ABCC4 membrane transporter modulates platelet aggregation[J]. Blood,2015,126(20):2307-2319. [17] DECOUTURE B,DREANO E,BELLEVILLE-ROLLAND T,et al.Impaired platelet activation and cAMP homeostasis in MRP4-deficient mice[J]. Blood,2015,126(15):1823-1830. [18] TEMPERILLI F,DI FRANCO M,MASSIMI I,et al.Nonsteroidal anti-inflammatory drugs in-vitro and in-vivo treatment and Multidrug Resistance Protein 4 expression in human platelets[J]. Vasc Pharmacol,2016,76:11-17. [19] MONTGOMERY W M,NANCE S J,DONNELLY S F,et al.MAM:a “new” high-incidence antigen found on multiple cell lines[J]. Transfusion,2000,40(9):1132-1139. [20] THORNTON N,CREW V K,TILLEY L,et al.Disrupti on of the tumour-associated EMP3 enhances erythroid proliferation and causes the MAM-negative phenotype[J]. Nat Commun,2020,11(1):3569. [21] BEN-PORATH I,KOZAK C A,BENVENISTY N.Chromosomal mapping of Tmp (Emp1),Xmp (Emp2),and Ymp (EMP3),genes encoding membrane proteins related to Pmp22[J]. Genomics,1998,49(3):443-447. [22] HAGEN S J.Non-canonical functions of claudin proteins:beyond the regulation of cell-cell adhesions[J]. Tissue Barriers,2017,5(2):e1327839. [23] AHMAT AMIN M K B,SHIMIZU A,OGITA H. The pivotal roles of the epithelial membrane protein family in cancer invasiveness and metastasis[J]. Cancers,2019,11(11):1620. [24] DANIELS G L,TALIANO V,KLEIN M T,et al.Emm. A red cell antigen of very high frequency[J]. Transfusion,1987,27(4):319-321. [25] DUVAL R,NICOLAS G,WILLEMETZ A,et al.Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders[J]. Blood,2021,137(26):3660-3669. [26] LANE W J,AESCHLIMANN J,VEGE S,et al.PIGG defines the Emm blood group system[J]. Sci Rep,2021,11(1):18545. [27] KINOSHITA T.Biosynthesis and deficiencies of glycosylphosphatidylinositol[J]. Proc Jpn Acad Ser B Phys Biol Sci,2014,90(4):130-143. [28] MAKRYTHANASIS P,KATO M,ZAKI M S,et al.Pathogenic variants in PIGG cause intellectual disability with seizures and hypotonia[J]. Am J Hum Genet,2016,98(4):615-626. [29] WAGNER M M,VAN DUNNÉ F M,KUIPERS I,et al. Anti-Emm in a pregnant patient— case report[J]. Vox Sang,2014,106(4):385-386. [30] OEPKES D,VAN KAMP I L,SIMON M J,et al. Clinical value of an antibody-dependent cell-mediated cytotoxicity assay in the management of Rh D alloimmunization[J]. Am J Obstet Gynecol,2001,184(5):1015-1020. [31] FUJITA M,MAEDA Y,RA M,et al.GPI glycan remodeling by PGAP5 regulates transport of GPI-anchored proteins from the ER to the Golgi[J]. Cell,2009,139(2):352-365. [32] PARSAMANESH N,SAFARPOUR H,ETESAM S,et al.Identification and in silico characterization of a novel point mutation within the phosphatidylinositol glycan anchor biosynthesis class G gene in an Iranian family with intellectual disability[J]. J Mol Neurosci,2019,69(4):538-545. [33] SUGIER H, VRIGNAUD C, DUVAL R, et al.Null allele of ABCC1 encoding the multidrug resistance protein 1 defines a novel human blood group system[J]. Vox Sang, 2020, 115(suppl. s1): 40-41. [34] COLE S P C. Targeting multidrug resistance protein 1 (MRP1,ABCC1):past,present,and future[J]. Annu Rev Pharmacol Toxicol,2014,54:95-117. [35] COLE S P C. Multidrug resistance protein 1 (MRP1,ABCC1),a “multitasking” ATP-binding cassette (ABC) transporter[J]. J Biol Chem,2014,289(45):30880-30888. [36] LESLIE E M.Arsenic-glutathione conjugate transport by the human multidrug resistance proteins (MRPs/ABCCs)[J]. J Inorg Biochem,2012,108:141-149. [37] ROBEY R W,PLUCHINO K M,HALL M D,et al. Revisiting the role of ABC transporters in multidrug-resistant cancer[J]. Nat Rev Cancer,2018,18(7):452-464. [38] FONSECA L M,ALVAREZ A B,RODRIGUES R C,et al.ABCC1 is related to the protection of the distal nephron against hyperosmolality and high sodium environment:possible implications for cancer chemotherapy[J]. PLoS One,2013,8(6):e68049. |
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