Yang Xue, Chao Li, Wen-Long Xin, Xing Zeng, Tao Ma, Fang-Fang Chen, Chen Cao, Hong-Jun Gao
{"title":"[Identification of Novel Variations in Exon 1 of ABO Blood Group Gene].","authors":"Yang Xue, Chao Li, Wen-Long Xin, Xing Zeng, Tao Ma, Fang-Fang Chen, Chen Cao, Hong-Jun Gao","doi":"10.19746/j.cnki.issn.1009-2137.2024.04.037","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>Serological and molecular biology methods were used to identify the blood type of a patient with forward and reverse ABO typing inconsistency, and to explore the genetic characteristics of this blood type.</p><p><strong>Methods: </strong>The ABO phenotype of the proband was identified by tube method, and the ABO blood group genotype of the proband and her parents was determined by fluorescent PCR. The 7 exons of the <i>ABO</i> gene were directly sequenced and analyzed.</p><p><strong>Results: </strong>According to preliminary serological identification, the ABO phenotype of this patient was Bel subtype. Genotyping tests showed that the <i>ABO</i> genotype of the proband and her father was <i>B/O1</i> , and her mother was <i>O1/O1</i>. Sequencing of exons revealed novel heterozygous variations in exon 1: c.16_17delinsTGTTGCA.</p><p><strong>Conclusion: </strong>The Novel variations in exon 1 led to Bel subtype in the ABO blood group of the proband, and these variations are heritable.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2024-08-01","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.1009-2137.2024.04.037","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
Abstract
Objective: Serological and molecular biology methods were used to identify the blood type of a patient with forward and reverse ABO typing inconsistency, and to explore the genetic characteristics of this blood type.
Methods: The ABO phenotype of the proband was identified by tube method, and the ABO blood group genotype of the proband and her parents was determined by fluorescent PCR. The 7 exons of the ABO gene were directly sequenced and analyzed.
Results: According to preliminary serological identification, the ABO phenotype of this patient was Bel subtype. Genotyping tests showed that the ABO genotype of the proband and her father was B/O1 , and her mother was O1/O1. Sequencing of exons revealed novel heterozygous variations in exon 1: c.16_17delinsTGTTGCA.
Conclusion: The Novel variations in exon 1 led to Bel subtype in the ABO blood group of the proband, and these variations are heritable.