α-1,3半乳糖胺基转移酶基因变异致Bw亚型一个家系的遗传学分析  

Analysis of a Chinese pedigree with Bw subtype due to a novel variant of α-1, 3 galactose aminotransferase gene

作　　者：武文 张新萍 刘超 黄象艳 Wu Wen;Zhang Xinping;Liu Chao;Huang Xiangyan(Department of Transfusion Medicine,the 960th Hospital of the PLA Joint Logistics Support Force,Jinan,Shandong 250031,China)

机构地区：[1]解放军联勤保障部队第九六〇医院输血医学科,济南250031

出　　处：《中华医学遗传学杂志》2024年第7期858-861,共4页Chinese Journal of Medical Genetics

基　　金：山东省医药卫生科技发展计划(202111001080)。

摘　　要：目的探讨1个Bw亚型家系的血清学和基因序列特征。方法选择2020年12月10日在解放军联勤保障部队第九六〇医院输血医学科进行孕前检查的1名32岁女性先证者及其5名家系成员作为研究对象。用血清学方法进行ABO血型表型的检测和ABO血型基因分型。通过对先证者ABO基因第1~7外显子直接测序及单体型分析。结果先证者血型血清学表现为Bw,荧光PCR检测ABO血型的基因型为B/O。直接测序的结果显示,先证者符合ABO*O.01.01/ABO*B.01基因型,同时携带c.1A>G变异。经克隆测序,c.1A>G变异发生在ABO*B.01等位基因上。家系调查发现,先证者母亲的血型为O型,丈夫为B型,3名子女的血型为正常的B型,基因测序显示,先证者2个儿子的血型基因包含该变异,基因型为ABO*B.01with c.1A>G/ABO*B.01,先证者女儿的血型基因型为ABO*O.01.01/ABO*B.01,母亲为ABO*O.01.01/ABO*O.01.02。结论α-1,3半乳糖胺基转移酶基因第1外显子c.1A>G可导致B抗原表达减弱,考虑为先证者血型为Bw亚型的原因。Objective To explore the serological characteristics and genetic variant in a Chinese pedigree with Bw subtype.Methods A 32-year-old female proband who had undergone prenatal examination on December 10,2020 at the 960th Hospital of the PLA Joint Logistics Support Force and five members from her pedigree were selected as the study subjects.Peripheral blood samples were collected and subjected to ABO blood group phenotyping with serological methods and ABO blood group genotyping with fluorescent PCR.Genetic testing and haplotype analysis were carried out by direct sequencing of the entire coding region of the ABO gene in the proband and cloned sequencing of exons 1-7.Results The blood type serology of the proband showed Bw,and the ABO blood type genotype determined by fluorescence PCR was B/O.The direct sequencing results showed that the proband had matched the ABO*O.01.01/ABO*B.01 genotype and carried a c.1A>G variant.Cloned sequencing has confirmed the c.1A>G variant to have occurred in the ABO*B.01 allele.Family analysis revealed that the mother of the proband had an O blood type,her husband had a B phenotype,and the her three children had a normal B blood type.DNA sequencing showed that the two sons of the proband had a genotype of ABO*B.01 and c.1A>G/ABO*B.01.The daughter of the proband was ABO*O.01.01/ABO*B.01,whilst her mother was ABO*O.01.01/ABO*O.01.02.The novel c.1A>G variant sequence has been registered with the database with a number of MZ0767851.Conclusion The novel c.1A>G variant of exon 1 ofα-1,3 galactose aminotransferase gene probably underlay the reduced expression of B antigen in this pedigree.

关 键 词：ABO血型亚型 基因变异 ABO糖基转移酶 

分 类 号：R446.11[医药卫生—诊断学] R457.11[医药卫生—临床医学]