新生儿ABO血型抗原弱表达的基因分析  

Genetic analysis of weak expression of ABO blood group antigens in neonates

作　　者：杨佳丽 赵鼎 李巍[1] 张笑盼 李志浩 田冬冬 YANG Jiali;ZHAO Ding;LI Wei;ZHANG Xiaopan;LI Zhihao;TIAN Dongdong(Department of Blood Transfusion,Children’s Hospital Affiliated to Zhengzhou University,Henan Children’s Hospital Zhengzhou Children’s Hospital,Zhengzhou 450018,China)

机构地区：[1]郑州大学附属儿童医院、河南省儿童医院郑州儿童医院输血科,河南郑州450018

出　　处：《中国输血杂志》2025年第1期85-90,96,共7页Chinese Journal of Blood Transfusion

基　　金：河南省医学科技攻关计划联合共建项目(LHGJ20220749)。

摘　　要：目的对新生儿ABO血型抗原弱凝集和混合凝集的标本进行基因分析,探讨新生儿ABO亚型分子生物学特性。方法采用试管法和微柱凝胶法进行ABO血型的血清学鉴定,PCR法扩增其ABO基因第2~7外显子,扩增产物用Sanger测序法进行基因测序,判断基因型。结果14例新生儿ABO血型血清学结果中A抗原减弱8例,B抗原减弱6例,有7例标本检出ABO亚型等位基因,基因型分别为A102/B101+c.538C>T、Aw26/B102、A205/O02、A205/B101(2例)、Aw26/O02、B(A)06/O01、B101/O01(3例)、A102/O01(2例)、A102/B101、B101/O02。此外,在对携带B(A)06等位基因患者的家系调查中发现另外3名家庭成员同样携带该等位基因。结论对于新生儿ABO血型鉴定中抗原减弱的标本,除了年龄因素有必要考虑ABO亚型的可能,借助基因检测可防止新生儿ABO亚型的漏检。Objective To perform genetic analysis on samples with weak agglutination and mixed agglutination of ABO blood group antigens in neonates,and to investigate the molecular biological characteristics of ABO subtypes in neonates.Methods Serological identification of ABO blood group was performed by tube method and microcolumn gel method.The ABO exons 2-7 were amplified by PCR,and the amplified products were sequenced by Sanger sequencing method to determine the genotype.Results Among the ABO blood group serological results of 14 neonates,8 cases showed weakened A antigen,and 6 cases showed weakened B antigen.Seven samples were identified with ABO subtype alleles,with genotypes as A102/B101+c.538C>T,Aw26/B102,A205/O02,A205/B101(2 cases),Aw26/O02,B(A)06/O01,B101/O01(3 cases),A102/O01(2 cases),A102/B101 and B101/O02.Additionally,three other family members were also found to carry B(A)06 allele in a pedigree investigation.Conclusion For samples showing weakened antigens in ABO blood type identification of neonates,it is necessary to consider the possibility of ABO subtype in addition to age factors,and genetic testing can be used to prevent missed detection of ABO subtypes in neonates.

关 键 词：新生儿 ABO血型 抗原弱表达 ABO亚型 基因测序 

分 类 号：R457.1[医药卫生—治疗学]