[一种罕见的Ael05/B101亚型的鉴定及输血策略的选择]
[Identification of a Rare Ael05/B101 Subtype and Selection of Blood Transfusion Strategy].
作者信息
Feng Qiang, Xiao Jian-Yu, Wu Min-Hui, Zhang Yue-Xiang, Xia Yong, Mu Xin, Chen Qing
机构信息
Department of Clinical Laboratorial Examination, Tianjin Central Hospital of Gynecology and Obstetrics, Tianjin 300100, China.
Jiangsu Province Blood Center, Nanjing 210042, Jiangsu Province, China.
出版信息
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2017 Oct;25(5):1528-1531. doi: 10.7534/j.issn.1009-2137.2017.05.044.
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.
目的
通过ABO基因分型探讨1例患者ABO血型不符的机制及合理的输血策略。
方法
进行常规血清学检测以分析ABO血型。通过吸收-洗脱试验确定红细胞上血型抗原的存在。采用聚合酶链反应（PCR）扩增ABO基因的外显子1-7及相邻内含子并进行测序。
结果
该患者ABO正、反定型不符。ABO正定型为B型，而反定型提示患者为AB亚型。吸收-洗脱试验证实患者红细胞上存在弱A抗原。ABO基因测序显示外显子7第767位发生T>C置换，导致第256密码子异亮氨酸替换为苏氨酸。ABO血型基因型为ABO*Ael05/B101。
结论
α-1,3-N-乙酰半乳糖基因第767位T>C置换是导致Ael05亚型A抗原表达降低的分子机制。
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