[RHD Genotyping Characteristics of RhD-Negative Blood Donors in Wuhu Area].

Meng-Nan Li, Zhen-Jun DU, Jing-Wen Liu, Rui Zhang, Yuan Wang, Dian-Ming Cao, Ji-Chun Tao, Lu-Chen Zou, Hui Huang, En-Tao Sun
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引用次数: 0

Abstract

Objective: To investigate the molecular mechanism and distribution characteristics of RhD negative phenotypes in Han population of blood donors in Wuhu city.

Methods: A total of 210 RhD- samples from August 2021 to August 2022 were screened by serological test and collected from Wuhu Central Blood Station for the voluntary blood donor population. Exons 1 and 10 of the RHD gene were amplificated by PCR to determine whether the samples had the RHD gene. Exons 1-10 of the RHD gene were amplificated by PCR and zygosity analysis were performed in 82 samples containing D gene, and Sanger sequencing was performed on 55 samples containing all RHD exons to determine the genotype.

Results: Among 210 RhD- specimens, 128 cases (60.38%) had RHD gene deletion. 27 cases had partial exons of RHD, including 2 cases with RHD*DVI.3/RHD*01N.01, 24 cases with RHD*01N.04/RHD*01N.01, and 1 case with RHD-CE(2-10)/RHD*01N.01. 55 cases had retained all of 10 exons, including 4 cases with RHD*01/RHD*01N.01, 6 cases with RHD*15/RHD*01N.01, 1 case with RHD*01W.72/RHD*01N.01, 1 case with RHD*15/RHD*01EL.01, 39 cases with RHD*01EL.01/RHD*01N.01, and the remaining 4 cases were determined to have no RHD gene deletion by zygosity analysis and sequencing showed the presence of 1227G>A mutation loci.

Conclusion: There is polymorphism in the molecular mechanism of RhD- D gene in Wuhu blood donor population, among which RHD*01EL.01 and RHD*15 are the main variants in this region. The results of this study provide a theoretical basis for RhD blood group identification and clinical blood transfusion in this region.

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[芜湖地区 RhD 阴性献血者的 RHD 基因分型特征]。
目的:研究芜湖市汉族献血者RhD阴性表型的分子机制及分布特征:研究芜湖市汉族献血者RhD阴性表型的分子机制及分布特征:方法:从芜湖市中心血站采集2021年8月至2022年8月自愿无偿献血者血样,通过血清学检测筛选出210例RhD阴性血样。通过 PCR 扩增 RHD 基因的 1 号和 10 号外显子来确定样本是否含有 RHD 基因。通过PCR扩增RHD基因的1-10外显子,对82份含有D基因的样本进行配子分析,并对55份含有所有RHD外显子的样本进行Sanger测序,以确定其基因型:结果:在 210 例 RhD- 标本中,128 例(60.38%)存在 RHD 基因缺失。27例有部分RHD外显子,其中2例为RHD*DVI.3/RHD*01N.01,24例为RHD*01N.04/RHD*01N.01,1例为RHD-CE(2-10)/RHD*01N.01。55例保留了全部10个外显子,其中4例为RHD*01/RHD*01N.01,6例为RHD*15/RHD*01N.01,1例为RHD*01W.72/RHD*01N.01,1例为RHD*15/RHD*01EL.01、39例为RHD*01EL.01/RHD*01N.01,其余4例通过基因组分析确定无RHD基因缺失,测序结果显示存在1227G>A突变位点:结论:芜湖献血人群RhD- D基因分子机制存在多态性,其中RHD*01EL.01和RHD*15是该区域的主要变异。本研究结果为该地区RhD血型鉴定和临床输血提供了理论依据。
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来源期刊
中国实验血液学杂志
中国实验血液学杂志 Medicine-Medicine (all)
CiteScore
0.40
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发文量
7331
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