新生儿ABO血型抗原弱表达的基因分析

R457.1; 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(...

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Published in中国输血杂志 Vol. 38; no. 1; pp. 85 - 96
Main Authors 杨佳丽, 赵鼎, 李巍, 张笑盼, 李志浩, 田冬冬
Format Journal Article
LanguageChinese
Published 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 2025
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ISSN1004-549X
DOI10.13303/j.cjbt.issn.1004-549x.2025.01.014

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Abstract R457.1; 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.
AbstractList R457.1; 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.
Abstract_FL 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 deter-mine 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 ca-ses),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 identi-fication 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.
Author 赵鼎
田冬冬
李巍
杨佳丽
张笑盼
李志浩
AuthorAffiliation 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
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Author_FL ZHAO Ding
LI Zhihao
LI Wei
YANG Jiali
ZHANG Xiaopan
TIAN Dongdong
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DocumentTitle_FL Genetic analysis of weak expression of ABO blood group antigens in neonates
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Keywords ABO亚型
抗原弱表达
ABO血型
neonate
gene sequencing
基因测序
ABO subtype
新生儿
ABO blood group
weak expression of antigen
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Publisher 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
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Snippet R457.1; 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...
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Title 新生儿ABO血型抗原弱表达的基因分析
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