摘要
目的 探讨ABO血型基因第7外显子c.586T>C突变致Bel亚型的分子机制与血清学特征,为临床精准分型及安全输血提供依据。方法 采用ABO血型正反定型、吸收放散试验及ABO血型基因检测方法,对先证者及其家庭成员共4人完成ABO亚型分析及家系遗传规律调查。结果 4例样本中先证者血清学表型为Bel亚型,测序技术鉴定ABO基因序列第7外显子存在c.586T>C位点突变,ABO基因型为ABO*Bel(c.586T>C)/O.01.01,其余3人ABO血型为正常表型。结论 联合血清学与分子生物学方法进行准确鉴定,确定ABO基因序列第7外显子c.586T>C位点突变是导致本例Bel的分子基础。
Objective The molecular mechanism and serological characteristics of Bel subtype caused by exon c.586T>C mutation in the ABO blood type gene were discussed,providing a basis for clinical precision typing and safe blood transfusion.Methods ABO subtype analysis and family genetic law survey were carried out by using ABO blood type forward and reverse typing,absorption and dispersion test and ABO blood type gene detection methods.Results The serological phenotype of the proband in the four samples was Bel subtype.Sequencing technology identified that 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.Conclusion Accurate identification was carried 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.
作者
王帅
郝志鹏
柏立曼
王亚
赵泽荣
Wang Shuai;Hao Zhipeng;Bai Liman;Wang Ya;Zhao Zerong(Department of Blood Transfusion,North China Medical and Health Group Xingtai General Hospital,Xingtai 054000,China)
出处
《实用医技杂志》
2025年第9期645-648,共4页
Journal of Practical Medical Techniques
基金
邢台市科技计划(2024ZC161)。
关键词
ABO血型系统
Bel亚型
血清学
基因分型
家系调查
ABO blood-group system
The Bel subtype
Serological typing
Genetic typing
Family study
