ABO血型B抗原减弱分子生物学及家系分析  

Molecular biology and pedigree analysis of ABO blood group B antigen weakening

作　　者：王雅茹 李萌[1] 何婷 王星 吴莉珺 WANG Yaru;LI Meng;HE Ting;WANG Xing;WU Lijun(Department of Blood Transfusion,Children’s Hospital of Nanjing Medical University,Nanjing,210008,China)

机构地区：[1]南京医科大学附属儿童医院输血科,南京210008

出　　处：《临床血液学杂志》2021年第8期583-585,共3页Journal of Clinical Hematology

摘　　要：目的:探讨ABO血型B抗原表达减弱样本的分子生物学机制,并对其家系ABO血型反应格局特征进行分析。方法:采用微柱凝集法及盐水试管法进行ABO血型血清学检测;PCR产物直接测序对ABO基因第1~7外显子进行ABO血型基因分型及序列分析。结果:血清学检测结果显示患儿为ABweak,患儿母亲为Bweak,患儿B抗原表达弱于母亲且有抗B抗体的产生;分子生物学结果显示患儿基因型为ABO*A1.02/ABO*B3.02,患儿母亲基因型为ABO*B3.02/ABO*O.01.02。结论:患儿及其母亲ABO血型B抗原表达减弱存在家系遗传性质,均表现为B3型;但二者B抗原表达情况及抗A产生强度均有所不同,可能由于患儿A等位基因竞争抑制作用导致,同时是否与患儿免疫系统未发育完全有关,值得进一步关注。Objective:To explore the molecular biological mechanism of ABO blood group B antigen expression weakening in samples,and analyze the characteristics of ABO blood group response pattern in their families.Methods:ABO blood group was detected by microcolumn agglutination method and saline test tube method.ABO blood group genotyping and sequence analysis were performed by direct sequencing of the PCR products of exon 1-7 of ABO gene.Results:Serological test results showed that the child had ABweak and the mother had Bweak,the expression of B antigen in the child was weaker than that in the mother,and the production of anti-B antibody was also produced.Molecular biological results showed that the genotype of the children was ABO*A1.02/ABO*B3.02,and the genotype of the mother was ABO*B3.02/ABO*O.01.02.Conclusion:The decreased expression of ABO blood group B antigen in the children and their mothers had a genealogical character,and all of them were B3 type.However,the expression of B antigen and the intensity of anti-A production were different between the two,which may be caused by the competitive inhibition of A allele in children.At the same time,whether it is related to the incomplete development of the immune system in children is worth further attention.

关 键 词：儿童 B抗原减弱 家系遗传 DNA测序 

分 类 号：R339.31[医药卫生—人体生理学]