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
{"title":"[芜湖地区 RhD 阴性献血者的 RHD 基因分型特征]。","authors":"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","doi":"10.19746/j.cnki.issn.1009-2137.2024.05.035","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>To investigate the molecular mechanism and distribution characteristics of RhD negative phenotypes in Han population of blood donors in Wuhu city.</p><p><strong>Methods: </strong>A total of 210 RhD<sup>-</sup> 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 <i>RHD</i> gene were amplificated by PCR to determine whether the samples had the <i>RHD</i> gene. Exons 1-10 of the <i>RHD</i> 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 <i>RHD</i> exons to determine the genotype.</p><p><strong>Results: </strong>Among 210 RhD<sup>-</sup> specimens, 128 cases (60.38%) had <i>RHD</i> gene deletion. 27 cases had partial exons of <i>RHD</i>, including 2 cases with <i>RHD*DVI.3/RHD*01N.01</i>, 24 cases with <i>RHD*01N.04/RHD*01N.01</i>, and 1 case with <i>RHD-CE(2-10)/RHD*01N.01</i>. 55 cases had retained all of 10 exons, including 4 cases with <i>RHD*01/RHD*01N.01</i>, 6 cases with <i>RHD*15/RHD*01N.01</i>, 1 case with <i>RHD*01W.72/RHD*01N.01</i>, 1 case with <i>RHD*15/RHD*01EL.01</i>, 39 cases with <i>RHD*01EL.01/RHD*01N.01</i>, and the remaining 4 cases were determined to have no <i>RHD</i> gene deletion by zygosity analysis and sequencing showed the presence of 1227G>A mutation loci.</p><p><strong>Conclusion: </strong>There is polymorphism in the molecular mechanism of RhD<sup>-</sup> D gene in Wuhu blood donor population, among which <i>RHD*01EL.01 and RHD*15</i> 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.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":"32 5","pages":"1531-1538"},"PeriodicalIF":0.0000,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[<i>RHD</i> Genotyping Characteristics of RhD-Negative Blood Donors in Wuhu Area].\",\"authors\":\"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\",\"doi\":\"10.19746/j.cnki.issn.1009-2137.2024.05.035\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>To investigate the molecular mechanism and distribution characteristics of RhD negative phenotypes in Han population of blood donors in Wuhu city.</p><p><strong>Methods: </strong>A total of 210 RhD<sup>-</sup> 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 <i>RHD</i> gene were amplificated by PCR to determine whether the samples had the <i>RHD</i> gene. Exons 1-10 of the <i>RHD</i> 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 <i>RHD</i> exons to determine the genotype.</p><p><strong>Results: </strong>Among 210 RhD<sup>-</sup> specimens, 128 cases (60.38%) had <i>RHD</i> gene deletion. 27 cases had partial exons of <i>RHD</i>, including 2 cases with <i>RHD*DVI.3/RHD*01N.01</i>, 24 cases with <i>RHD*01N.04/RHD*01N.01</i>, and 1 case with <i>RHD-CE(2-10)/RHD*01N.01</i>. 55 cases had retained all of 10 exons, including 4 cases with <i>RHD*01/RHD*01N.01</i>, 6 cases with <i>RHD*15/RHD*01N.01</i>, 1 case with <i>RHD*01W.72/RHD*01N.01</i>, 1 case with <i>RHD*15/RHD*01EL.01</i>, 39 cases with <i>RHD*01EL.01/RHD*01N.01</i>, and the remaining 4 cases were determined to have no <i>RHD</i> gene deletion by zygosity analysis and sequencing showed the presence of 1227G>A mutation loci.</p><p><strong>Conclusion: </strong>There is polymorphism in the molecular mechanism of RhD<sup>-</sup> D gene in Wuhu blood donor population, among which <i>RHD*01EL.01 and RHD*15</i> 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.</p>\",\"PeriodicalId\":35777,\"journal\":{\"name\":\"中国实验血液学杂志\",\"volume\":\"32 5\",\"pages\":\"1531-1538\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"中国实验血液学杂志\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.19746/j.cnki.issn.1009-2137.2024.05.035\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"中国实验血液学杂志","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.19746/j.cnki.issn.1009-2137.2024.05.035","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
[RHD Genotyping Characteristics of RhD-Negative Blood Donors in Wuhu Area].
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.