{"title":"A Novel RHD Allele Similar to RHD*DIV.4 with Additional c.1025T>C.","authors":"Hong Zhao, Jing Feng, Jian Chen, Guojin Ou","doi":"10.7754/Clin.Lab.2024.240828","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Polymorphic RH is one of the most important blood group systems used for transfusion. Use of molecular technologies combined with serological testing help to identify the new RHD variants.</p><p><strong>Methods: </strong>The traditional serological test of blood type was performed for a 28-year-old pregnant female. The result showed a weaker positive reaction result on two different microcolumn gel cards. A molecular genotyping assay was performed to get more information.</p><p><strong>Results: </strong>The gene sequence study indicated 7 nucleotide changes in exon 7, compared with the reference allele. The third-generation sequencing using the long-read PacBio HiFi system showed these variants were all located in the same haplotype. The variant is replaced by the counterpart from RHCE gene in exon 7 with at least 37 bp. Most of its position was located in the sixth extracellular loop.</p><p><strong>Conclusions: </strong>A novel RHD allele was identified with 7 missense mutations that is similar to RHD*DIV.4 and likely causes a partial D phenotype.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 2","pages":""},"PeriodicalIF":0.7000,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical laboratory","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.7754/Clin.Lab.2024.240828","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"MEDICAL LABORATORY TECHNOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Background: Polymorphic RH is one of the most important blood group systems used for transfusion. Use of molecular technologies combined with serological testing help to identify the new RHD variants.
Methods: The traditional serological test of blood type was performed for a 28-year-old pregnant female. The result showed a weaker positive reaction result on two different microcolumn gel cards. A molecular genotyping assay was performed to get more information.
Results: The gene sequence study indicated 7 nucleotide changes in exon 7, compared with the reference allele. The third-generation sequencing using the long-read PacBio HiFi system showed these variants were all located in the same haplotype. The variant is replaced by the counterpart from RHCE gene in exon 7 with at least 37 bp. Most of its position was located in the sixth extracellular loop.
Conclusions: A novel RHD allele was identified with 7 missense mutations that is similar to RHD*DIV.4 and likely causes a partial D phenotype.
期刊介绍：
Clinical Laboratory is an international fully peer-reviewed journal covering all aspects of laboratory medicine and transfusion medicine. In addition to transfusion medicine topics Clinical Laboratory represents submissions concerning tissue transplantation and hematopoietic, cellular and gene therapies. The journal publishes original articles, review articles, posters, short reports, case studies and letters to the editor dealing with 1) the scientific background, implementation and diagnostic significance of laboratory methods employed in hospitals, blood banks and physicians'' offices and with 2) scientific, administrative and clinical aspects of transfusion medicine and 3) in addition to transfusion medicine topics Clinical Laboratory represents submissions concerning tissue transplantation and hematopoietic, cellular and gene therapies.
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