Analysis of the polymorphism of RHD gene in Shenyang individuals and accurate blood transfusion
-
摘要: 目的 研究沈阳地区人群RHD基因多态性分布特征，探讨RhD阴性及D变异体献血员和患者的血液管理，保障输血安全。方法 采用血清学与分子生物学相结合的方法对医院2018年11月1日—2020年12月1日献血员和患者的RhD血型进行鉴定。结果 45 180例标本中，血清学筛选出RhD阴性137例和弱D表型(IgM抗D＜3+)5例；分子生物学方法检测出10种RHD基因变异类型：RHD(1227G>A)(29/142)和weak D type15 (3/142)最为多见；4种RHD-CE融合基因，RHD-CE(2-9)-RHD(8/142)占比最大，RHD-RHCE(4-7)-RHD(2/142)、DV type 2 [Hybrid RHCE(5)](1/142)和DVI type3[Hybrid RHCE(3-6)](1/142)次之。4种罕见单核苷酸突变：partial DV type 1(c.667T>G and c.697G>C) ((1/142))、weak D type 33(c.520 G>A)((2/142))、weak D type 40(c.602C>G)(1/142)和weak D type 100(c.787G>A)(1/142)。结论 沈阳地区人群RHD基因具有其独特的多态性，对该地区临床建立RHD阴性和变异体输血策略，实现精准输血具有重要意义。Abstract: Objective To explore the blood management of RhD negative and RhD variants in blood donors and patients by investigating the distribution character of the RHD gene polymorphism in Shenyang individuals, so as to ensure blood transfusion safety.Methods The RhD blood types of blood donors and patients in our center from January 1, 2018 to December 1, 2020 were identified by serological combined with molecular methods.Results Of the 45 180 samples, 137 cases of RhD negative phenotype and 5 cases of weak D phenotype(IgM anti-D<3+) were screened by serological methods. 10 types of RHD gene variants were detected by molecular methods. RHD (1227G>A) (29/142) and weak D type15 (3/142) were the most common ones. There were 4 types of RHD-CE fusion gene. They were RHD-CE (2-9)-RHD (8/142) accounted for the largest number, RHD-RHCE (4-7)-RHD (2/142), DV type 2 (Hybrid RHCE[5]) (1/142) and DVI type3 (Hybrid RHCE[3-6]) (1/142) second. There were 4 types of rare single nucleotide mutation. They were partial DV type 1 (c.667T>G and c.697G>C) (1/142), weak D type 33 (c.520 G>A) (2/142), weak D type 40 (c.602C>G) (1/142) and weak D type 100 (c.787G>A) (1/142).Conclusion The polymorphisms of RHD gene in Shenyang individuals were specific. They had important significance for establishing the blood management of RHD negative and variants and achieving accurate blood transfusion.
-
Key words:
- RHDgene /
- serology /
- gene polymorphism /
- accurate blood transfusion
-
-
表 1 142例血清学RhD阴性和弱D表型的RHD基因型、表现型和分布频率统计结果
样本号 RHD基因型 发生频率 表现型分类 核酸改变 氨基酸改变 表型 杂合型 ISBT命名 1 DV type 2 1(0.007) Partial D Hybrid RHCE( 5 ) CDe RHD阳性/RHD阴性 RHD*05.02 2 DVI type3 1(0.007) Partial D Hybrid RHCE( 3-6 ) CDe RHD阳性/RHD阴性 RHD*06.03 3-4 DV type 1 2(0.014) Partial D c.667T>G
c.697 G>Cp.F223V
p.E233QCDe RHD阳性/RHD阴性 RHD*05.01 5-7 weak D type 15 3(0.021) weak D c.845G>A p.G282D cDE/CDE RHD阳性/RHD阴性 RHD*15 8 weak D type 40 1(0.007) weak D c.602C>G p.T201R CDE RHD阳性/RHD阴性 RHD*01W.40 9-10 weak D type 33 2(0.014) weak D c.520 G>A p.V174M CDe RHD阳性/RHD阴性 RHD*01W.33 11 weak D type 100 1(0.007) weak D c.787G>A p.G263R CDE RHD阳性/RHD阴性 RHD*01W.100 12-40 RHD(1227G>A) 29(0.204) DEL c.1227G>A p.K409K CDe/CDE/cDE RHD阳性/RHD阴性
RHD阳性/RHD阳性RHD*01EL.01 41-48 RHD-RHCe( 2-9 )-RHD 8(0.056) D negative Hybrid RHCE( 3-9 ) Cde/cdE RHD阳性/RHD阴性 RHD*01N.03 49-50 RHD-RHCE( 4-7 )-RHD 2(0.014) D negative Hybrid RHCE( 4-7 ) Cde RHD阳性/RHD阴性 RHD*01N.07 51-142 RHD deletion 92(0.648) D negative RHD deletion Cde/CdE/cdE/cde RHD阴性/RHD阴性 RHD*01N.01 
下载: 导出CSV
-
[1] 王林, 安宁, 杨世明, 等. RhD抗原阳性患者血清Rh意外抗体的检测分析[J]. 细胞与分子免疫学杂志, 2023, 39(1): 70-74.
[2] 熊文, 邵超鹏, 周一炎. 中国人特异性的RHD基因定型方法的建立[J]. 中国输血杂志, 2005, 18(1): 4-7.
[3] Gu J, Wang XD, Shao CP, et al. Molecular basis of DEL phenotype in the Chinese population[J]. BMC Med Genet, 2014, 15: 54.
[4] Gammon RR, Conceicao M, Benitez N, et al. Comparison of RhD typing results by serology and molecular methods[J]. Lab Med, 2023, 54(2): 190-192. doi: 10.1093/labmed/lmac097
[5] 杨红梅, 邹昕, 虞茜, 等. 常州地区RHD变异型基因分型及特征分析[J]. 临床血液学杂志, 2022, 35(10): 739-743. https://lcxy.whuhzzs.com/article/doi/10.13201/j.issn.1004-2806.2022.10.011
[6] 刘婷婷, 张烨, 李晓菲, 等. 北京地区RhD阴性献血者RHD基因分型及RhCE表型分布研究[J]. 北京医学, 2022, 44(10): 928-931.
[7] 蒋天舒, 周晔, 刘业, 等. 49例初筛RhD阴性汉族个体中D基因多态性的分析[J]. 中国输血杂志, 2019, 32(9): 932-934.
[8] 和苗, 马娜, 董伟群, 等. Rh阴性个体表型及RHD基因多态性研究[J]. 中国输血杂志, 2022, 35(3): 275-278.
[9] 刘建成, 邵峰, 步晓筠, 等. 宁夏回族RhD阴性人群RhD基因多态性研究[J]. 宁夏医学杂志, 2018, 40(1): 17-19.
[10] 付辉, 姚秀丽. 新疆昌吉地区不同民族Rh阴性献血者表型及基因频率分布调查[J]. 检验医学与临床, 2022, 19(10): 1414-1417.
[11] Yin QN, Flegel WA. DEL in China: the D antigen among serologic RhD-negative individuals[J]. J Transl Med, 2021, 19(1): 439. doi: 10.1186/s12967-021-03116-6
[12] Jiang ZH, Duan HL, Ding H, et al. A novel RHD allele, RHD c. 56C>G(p. Thr19Arg), with Del phenotype identified in a Chinese family[J]. Transfusion, 2022, 62(12): E73-E75.
[13] Simtong P, Phothi R, Puapairoj C, et al. RHD 1227 A and hybrid Rhesus box analysis in Thai RhD+and RhD-blood donors: prevalence, RHD zygosity, and molecular screening[J]. Transfus Apher Sci, 2022, 61(6): 103496. doi: 10.1016/j.transci.2022.103496
[14] 王志江, 彭沫溱, 张智慧, 等. 1例Del表型献血者RHD基因分析[J]. 中国实验血液学杂志, 2023, 31(3): 843-849.
[15] Ohto H, Albert FW, Safic SH. When should RhD-negative recipients be spared the transfusion of DEL red cells to avoid anti-D alloimmunization?[J]. Transfusion, 2022, 62(11): 2405-2408. doi: 10.1111/trf.17122
[16] Ye SH, Wu DZ, Wang MN, et al. A comprehensive investigation of RHD polymorphisms in the Chinese Han population in Xi'an[J]. Blood Transfus, 2014, 12(3): 396-404.
[17] Laget L, Izard C, Durieux-Roussel E, et al. Frequency and characterization of RHD and RHCE variants in the Noir Marron population from French Guiana[J]. Transfusion, 2022, 62(12): 2631-2638. doi: 10.1111/trf.17132
[18] 张成鑫, 王秋实. RHCE(2-9)-D变异产生抗-D引起新生儿溶血病1例[J]. 中国输血杂志, 2023, 36(3): 268-270.
[19] Zhang X, Li GJ, Zhou ZR, et al. Molecular and computational analysis of 45 samples with a serologic weak D phenotype detected among 132, 479 blood donors in northeast China[J]. J Transl Med, 2019, 17(1): 393.
[20] 张若洋, 肖建宇, 冯强, 等. Rh弱D1变异型鉴定及输血策略讨论[J]. 中国实验血液学杂志, 2022, 30(3): 861-864.
[21] 何著刚, 胡秀娟, 黄金. 壮族输血依赖型地中海贫血患者红细胞免疫抗体检出情况及输血有效性调查[J]. 临床军医杂志, 2023, 57(7): 749-752.
[22] 输血相容性检测实验室RhD血型检测策略专家共识编写组. 输血相容性检测实验室RhD血型检测策略专家共识[J]. 中国输血杂志, 2023, 36(5): 365-372.
-
图(2)
表(1)
计量
- 文章访问数: 232
- PDF下载数: 120
- 施引文献: 0