摘要
目的对一例血清学检测疑为cisAB型的样本进行基因分型和家系调查,以发现ABO亚型的分子基础及遗传规律。方法采用血型血清学方法对所有标本进行ABO血型鉴定,采用聚合酶链式反应(PCR)扩增ABO基因第6和7外显子并对扩增产物进行测序分析。结果该样本的基因型为ABO^*cisAB.01/O.01.02,该家系调查中发现其它4位成员的血清学结果正反定型结果不符,但血型学特征各有差异;测序结果发现均携带有ABO^*cisAB.01基因。结论ABO^*cisAB.01基因能导致A/B抗原的弱表达,并能稳定遗传。血型血清学正反定型不符的标本,可采用分子生物学方法进行检测,辅助鉴定ABO血型。
Objective To find out the molecular basis and genetic rule of ABO subtypeby genotyping and pedigree analysis of a sample suspected to be cisAB by serological examination.Methods ABO blood group was identified by blood group serology in all samples.Exons 6 and 7 of ABO gene were amplified by polymerase chain reaction(PCR)and sequenced.Results The results showed that thegenotype of the sample was ABO^*cisAB.01/O.01.02.In the family investigation,it was found thatserological results of the other fourmembers were found to be inconsistent with positive and negative reactions,but the blood type characteristics were different.The sequencing results showed that all of them carried the ABO^*cisAB.01 gene.Conclusion ABO^*cisAB.01 gene can lead to weak expression of A/B antigen and stable inheritance.ABO blood groups can be identified by molecular biological methods in the detection of serological specimens with different positive and negative blood types.The samples with incompatible serological typing can be detected by molecular biology method to assist in the identification of ABO blood group.
作者
罗随莉
杨小勇
周君
刘亚军
LUO Sui-li;YANG Xiao-yong;ZHOU Jun(Laboratory Department of Xianyang Central Blood Station,Xianyang 712046)
出处
《临床输血与检验》
CAS
2020年第5期545-548,共4页
Journal of Clinical Transfusion and Laboratory Medicine
