罕见Ael05/B101亚型鉴定及输血探讨  

Identification of a Rare Ael05/B101 Subtype and Selection of Blood Transfusion Strategy

作　　者：冯强[1] 肖建宇[2] 吴敏慧[2] 张月香[1] 夏勇[1] 穆鑫 陈青[2] 

机构地区：[1]天津市中心妇产科医院检验科,天津300100 [2]江苏省血液中心,江苏南京210042

出　　处：《中国实验血液学杂志》2017年第5期1528-1531,共4页Journal of Experimental Hematology

基　　金：江苏省重点研发计划社会发展项目(BE2015717);江苏省"十二五"期间"科教兴卫工程"医学重点人才(RC2011088);江苏省第十批"六大人才高峰"项目(2013-WSW-039);江苏省第四期"333高层次人才培养工程";2010;2014年度江苏省卫生国际交流支撑计划项目资助

摘　　要：目的:应用分子生物学方法鉴定ABO正反定型不一致的患者,并探讨合理的输血策略。方法:在常规血型血清学鉴定的基础上,应用吸收放散法鉴定弱血型抗原;PCR方法扩增ABO基因的7个外显子及侧翼内含子;对扩增产物进行直接测序及克隆测序分析。结果:患者ABO血型正反定型不一致,患者正定型为B型,反定型为AB型;吸收放散试验证明患者红细胞上存在弱A抗原,ABO基因测序发现第7外显子767位碱基T>C突变,导致256位异亮氨酸被苏氨酸替换,血型基因型为ABO*Ael05/B101。结论:α-1,3-N-乙酰半乳糖胺基转移酶基因的767位T>C突变是导致Ael05亚型A抗原表达减弱的分子机制。Objective： To explore the mechanism of ABO discrepancy in a patient by ABO genotyping and the reasonable blood transfusion strategy. Methods： Routine serological test was carried out to analyze ABO blood group.The presence of the blood group determinants on the red blood cells were determined by adsorption-elution test. Exons 1-7 and adjacent introns of the ABO gene were amplified by PCR and sequenced. Results： The patient showed ABO forward and reverse typing discrepancy. ABO forward typing defined as B,however,the reverse typing indicated that the patient was AB subtype. Absorption-elution test confirmed weak A antigens on the patient＇s red blood cells. The ABO gene sequencing showed a T C exchange at position in exon 7 which resulted in a isoleucine to threonine substitution at codon 256. The ABO blood group genotype was ABO＊ Ael05/B101. Conclusion： The 767 T C substitution in the gene of α-1,3-N-acetyl galactose is the molecular mechanism leading to the decrease expression of A antigen of the Ael05 subtype.

关 键 词：ABO血型 Ael亚型 ABO基因 Ael05/B101亚型 输血 

分 类 号：R457.1[医药卫生—治疗学]