A205cisAB01亚型1例无偿献血者的分子遗传学分析及家系调查  

Molecular genetic analysis and pedigree investigation of one voluntary blood donor of A205cisAB01 subtype

作　　者：庄文华 高振玲 冯智慧 刘丽 王玉国 Zhuang Wenhua;Gao Zhenling;Feng Zhihui;Liu Li;Wang Yuguo(Rizhao Blood Center,Rizhao 276800,Shandong Province,China;Qingdao Blood Center,Qingdao 266071,Shandong Province,China)

机构地区：[1]日照市中心血站,日照276800 [2]青岛市中心血站,青岛266071

出　　处：《国际输血及血液学杂志》2024年第1期61-68,共8页International Journal of Blood Transfusion and Hematology

摘　　要：目的探讨A205cisAB01亚型先证者的分子生物学鉴定及家系调查与遗传学分析。方法选择2019年1月21日于日照市中心血站参加无偿献血时,因血型复检正反定型不符需进一步血型确认的1例先证者及其姐姐、妻子、女儿和儿子为研究对象。先证者为男性,48岁,汉族,既往体健,无输血史。采用试管法对受试者的ABO血型进行血型血清学鉴定,采用Sanger测序法对受试者ABO基因第6、7外显子进行直接测序和单克隆测序,确定其ABO基因型,并且根据检测结果分析该亚型等位基因在家系中的遗传情况。本研究遵循的程序符合2013年修订版《世界卫生协会赫尔辛基宣言》要求,并且与所有受试者签署知情同意书。结果①本例先证者及其姐姐、女儿的血清学分型一致,均为cisAB型;先证者妻子和儿子的血清学分型分别为AB和AwB型。②直接测序结果显示,先证者ABO基因第7外显子存在3个突变位点:c.467C>T纯合、c.803G>C杂合和c.1009A>G杂合突变。单克隆测序结果确认其ABO基因型为A2.05/cisAB.01。③先证者姐姐、妻子、女儿、儿子的ABO基因型分别为A2.05/cisAB.01、A1.02/B.01、A1.02/cisAB.01、cisAB.01/B.01。④家系调查结果显示,先证者的ABO*cisAB.01等位基因稳定遗传至其女儿和儿子。结论对ABO基因直接测序能够明确碱基突变位点,单克隆测序可确认其基因型。ABO*cisAB.01等位基因的表达受不同等位基因的影响,存在不同的血清学表现。采用分子生物学检测技术和家系调查有助于准确鉴定ABO亚型,明确血清学表型的分子基础。Objective To explore the molecular biological identification of probard of A205cisAB01 subtype,as well as pedigree investigation and genetic analysis.Methods On January 21,2019,a blood donor who required further blood type confirmation due to inconsistency between positive and negative blood type re-examination when participating in voluntary blood donation at Rizhao Central Blood Station was selected as the proband.And this proband,his sister,wife,daughter and son were selected as study subjects.The proband was male,48 years old,of Han nationality,previously in good health,and had no history of blood transfusion.The ABO blood group serological identification of the subjects was performed by test tube method,and ABO genotype was determined by direct sequencing and monoclonal sequencing of exons 6 and 7 of the ABO gene by Sanger sequencing method,and the genetic status of alleles of subtype in the family was analyzed based on the test results.The study followed procedures in line with the requirements of the World Medical Association Declaration of Helsinki revised in 2013 and all subjects signed informed consent.Results①The serotype of the proband,his sister and daughter were cisAB subtype.The serotypes of the proband′s wife and son were AB and AwB,respectively.②Direct sequencing results showed that there were 3 mutation sites in exon 7 of ABO gene of proband,including c.467C>T homozygous,c.803G>C heterozygous and c.1009A>G heterozygous.The ABO genotype was identified as A2.05/cisAB.01 by monoclonal sequencing.③The ABO genotypes of the proband′s elder sister,wife,daughter and son were A2.05/cisAB.01,A1.02/B.01,A1.02/cisAB.01 and cisAB.01/B.01,respectively.④The results of family investigation showed that the ABO*cisAB.01 allele of the proband was stably inherited to his daughter and son.Conclusions Direct sequencing of ABO gene could identify the sites of base mutations,while monoclonal sequencing could confirm its genotype.The expression of ABO*cisAB.01 allele is affected by different alleles,and exhi

关 键 词：ABO血型系统 血清学试验 外显子测序 序列分析 DNA 家系调查 A205cisAB01亚型 

分 类 号：R193.3[医药卫生—卫生事业管理]