161现代检验医学杂志第38卷第1期2023年1月JModLabMed,Vol.38,No.1,Jan.2023ABO*BEL.11等位基因突变致红细胞B抗原弱表达的家系血型血清学及分子机制研究洪毅（西安高新医院输血科，西安710075）摘要：目的探讨由ABO*BEL.11等位基因导致的ABO正反定型不符样本及家系的血清学和分子生物学特性，研究其遗传方式。方法常规血型血清学方法和吸收放散试验鉴定样本的ABO血型表型；PCR方法扩增ABO基因7个外显子及其侧翼内含子，对扩增产物进行直接测序和克隆测序分析，并对先证者的亲属进行家系调查。结果先证者血型血清学结果为B弱；测序显示：存在ABO*B.01/O.01.01杂合且伴c.586C/T突变；克隆测序：c.261delG，297A>G，c.526C>G，c.586T>C，c.657C>T，c.703G>A，c.796C>A，c.803G>C和c.930G>A共9个突变，基因型结果为ABO*BEL.11/O.01.01。家系调查显示先证者父亲、母亲、妻子和女儿血型血清学结果分别为B型、O型、A型及B弱，其中先证者父亲及女儿的ABO基因存在ABO*BEL.11等位基因。结论ABO*B.01等位基因上c.586T>C的突变产生ABO*BEL.11等位基因，从而导致红细胞上B抗原的弱表达，且能够稳定遗传突变。关键词：ABO血型；表型；等位基因；家系调查中图分类号：R457.1；Q786文献标识码：A文章编号:1671-7414（2023）01-161-04doi:10.3969/j.issn.1671-7414.2023.01.030SerologyandMolecularMechanismofFamilyBloodGroupwithWeakExpressionofErythrocyteBAntigenCausedbyABO*BEL.11HONGYi（DepartmentofBloodTransfusion,Xi’anHigh-TechHospital,Xi’an710075，China）Abstract:ObjectiveToinvestigatetheserologicalandmolecularbiologicalcharacteristicsofABOpositiveandnegativestereotypesandlineagescausedbyABO*BEL.11alleles,andstudytheirgeneticpatterns.MethodsTheABObloodgroupphenotypeofthesampleswasidentifiedbyconventionalbloodgroupserologyandabsorption-elutiontest,ThesevenexonsandtheirflankingintronsoftheABOgenewereamplifiedbyPCR,andtheamplifiedproductswereanalyzedbydirectsequencingandcloningsequencing.Apedigreeinvestigationwascarriedoutontherelativesoftheproband.ResultsThebloodgroupserologyoftheprobandwasBweak.Sequencingshowedthattherewas:ABO*B.01/O.01.01heterozygositywithc.586C/T.Clonesequencingwerec.261delG,c.297A>G,c.526C>G,c.586T>C,c.657C>T,c.703G>A,c.796C>A,c.803G>Candc.930G>A,atotalof9m...
