α1,3-D-半乳糖基转移酶基因425C→T突变导致B3亚型分析  

425C→ T mutation of α1,3-D-galactose transferase gene responsible for B3 subtype

作　　者：崔文燕[1] 王钰菁 邹纬[2] 王学锋[2] 蔡晓红[2] CUI Wenyan;WANG Yujing;ZOU Wei;WANG Xuefeng;CAI Xiaohong(Department of Blood Transfusion,the Second Affiliated Hospital,Zhengzhou University,Zhengzhou 450014;Department of Blood Transfusion,the Affiliated Ruifin Hospital,School of Medicine,Shang-hai Jiaotong University,Shanghai 200025)

机构地区：[1]郑州大学第二附属医院输血科,郑州450014 [2]上海交通大学医学院附属瑞金医院输血科,上海200025

出　　处：《郑州大学学报（医学版）》2018年第5期655-658,共4页Journal of Zhengzhou University(Medical Sciences)

基　　金：上海市公共卫生重点学科建设项目(15GWZK0501);上海市自然科学基金资助项目(17ZR1417000)

摘　　要：目的:探讨B3亚型及其家系成员的血型血清学特点及分子机制。方法:对B3亚型及其家系成员进行ABO血型血清学定型,血浆α1,3-D-半乳糖基转移酶活性测定,ABO基因第6、7外显子及其侧翼序列的PCR扩增,基因测序和克隆分析。结果:先证者血型血清学鉴定ABO血型为B3亚型,血浆中α1,3-D-半乳糖基转移酶活性<1,该家系中2份标本ABO基因序列与标准序列相比,在第7外显子存在c.425C→T的杂合突变,致α1,3-D-半乳糖基转移酶的第142位氨基酸由甲硫氨酸替换为苏氨酸,先证者ABO基因型为B305/O102,且能在家系中稳定遗传。结论:基因位点突变425C→T是导致B3亚型的分子遗传基础,DNA测序能够阐述ABO血型亚型的分子机制及其稳定遗传特性。Aim： To explore the characteristics of blood group serology and molecular mechanism of B3 subtype family members. Methods： The ABO blood group serological test,the activity determination of α1,3-D-galactose transferase in plasma,as well as PCR amplification,gene sequencing and cloning analysis in 6 and 7 exon of ABO genes and flanking sequence were carried out. Results： B3 subgroup was serologically identified,and the α1,3-D-galactose transferase activity was lower than 1 in plasma of the proband. Compared with standard sequence,there was a single mutation of C→T was identified at425 position of exon 7 in the line of the ABO gene sequence of 2 specimens,and the 142 amino acid of α1,3-D-galactose aminotransferase,methionine,was replaced by threonine. The ABO genotype could be identified as B305/O102 and stable inherited in the family system. Conclusion： Gene point mutation 425 C→T is the molecular genetic basis that causes B3 subtype.DNA sequencing could explain the molecular mechanism of ABO blood type subtype and its stable genetic characteristics.

关 键 词：ABO血型 B3亚型 基因突变 α1 3-D-半乳糖基转移酶 

分 类 号：R457.1[医药卫生—治疗学]