Ael亚型个体的分子机制研究——附1例Ael亚型鉴定  

Molecular mechanism of A subgroup individuals:a case of A subgroup identification

作　　者：李小燕 李龚琼[1] 曾选[1] LI Xiaoyan;LI Gongqiong;ZENG Xuan(Maternal and Child Health Centre of JIANGXI Province,Nanchang 330000,China)

机构地区：[1]江西省妇幼保健院输血科,江西南昌330000

出　　处：《中国输血杂志》2020年第10期1051-1054,共4页Chinese Journal of Blood Transfusion

摘　　要：目的探讨血清学检测为疑似Ael亚型个体的分子机制,以确保临床准确定型及安全输血。方法采用试管法及吸收放散试验等血清学检测方法鉴定1名44岁女性患者ABO血型;根据其血清学疑似结果,经患者同意后抽EDTA抗凝血2mL进一步采用分子生物学方法,以序列特异性引物聚合酶链反应(PCR-SSP)做基因分型,并对第1—7外显子和第1—6号内含子测序。结果该患者血清学血型正反定型:正定型O、反定型A型;吸收放散试验:红细胞上出现弱A抗原符合Ael亚型血清学表现。PCR-SSP基因分型为A/002,测序体现为IVS6+5G>A杂合突变(外显子6下游5位,位于内含子6上);符合Ael04/002亚型特征性突变。结论血型血清学方法结合分子生物学手段可准确鉴定输血患者Ael亚型,从而保障患者输血安全、有效。Objective To explore the molecular mechanism of a suspected Ael subgroup initially detected by serological typing,in order to ensure accurate clinical typing and safe blood transfusion.Methods Tube method and absorption-elution test were adopted in serological typing for ABO blood group identification on a 44-year-old female patient.2 mL of EDTA anticoagulant blood was extracted with the consent of the patient due to the equivocal serological typing results and then subjected to genotype based on PCR-SSP.The exons 1—7 and introns 1—6 of the sample were sequencedResults The forward(type O)and reverse(type A)blood typing results were not consistent,and the presence of weak A antigen on red blood cells suggested Ael subgroup.The genotype revealed by PCR-SSP was A/002,with a heterozygous mutation of IVS6+5 G>A(5 downstream of exon 6,located on intron 6),which was in full concordance with the characteristic mutation of Ael04/002 subgroup.Conclusion Ael subgroups in blood candidates could be accurately identified by serological method combined with molecular analysis.

关 键 词：Ael亚型 分子机制 PCR血型分型 基因测序 血型血清学 ABO血型 输血安全 

分 类 号：R457.11[医药卫生—治疗学]