ABO血型基因第7外显子c.586T>C突变致Bel亚型结果分析

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【关键词】ABO血型系统；Bel亚型；血清学；基因分型；家系调查

基金项目：邢台市科技计划（2024ZC161）

DOI：10.19522/j.cnki.1671-5098.2025.09.001

Analysis of the results of Bel subtype caused by exonc.586T>C mutation in ABOblood type gene

Wang Shuai，Hao Zhipeng，Bai Liman， Wang Ya， Zhao Zerong

DepartmentofBlood Transfusion，North China Medical and Health Group Xingtai General Hospital，Xingtai

054000，China

【Abstract】 Objective The molecular mechanism and serological characteristics of Bel subtype caused by exon c.586T>C mutation inthe ABO blood type gene were discussed，providing a basis for clinical precision typing and safe blood transfusion.MethodsABO subtype analysis and family genetic law survey were carried out by using ABO blood type forward and reverse typing，absorption and dispersiontest and ABO blood type gene detection methods.Results The serological phenotype of the proband in the four samples was Bel subtype. Sequencing technology identifiedthat the c.586T>C site mutation was present in the 7th exon of the ABO gene sequence，and the ABO genotype was ABO*Bel （c.586T>C）/O.01.01.The ABO blood types of the other 3 people were normal phenotypes.ConclusionAccurate identification wascarried out in combination with serology and molecular biology methods to determine that the mutation of the 7th exon c.586T>C site of the ABO gene sequence is the molecular basis of the Bel in this case.

【Key words】 ABO blood-group system; The Bel subtype; Serological typing; Genetic typing; Family study

Fund program： Xingtai Science and Technology Project （2O24ZC161）

DOI：10.19522/j.cnki.1671-5098.2025.09.001

ABO血型系统是最早被人类发现的红细胞血型系统之一，是最有临床意义的人类红细胞血型系统1。（剩余5331字）