摘要
目的对血清学检测正反定型不符的标本进行分子生物学检测,探讨其分子基础和遗传规律,为安全输血提供保障。方法采用常规血型血清学方法对先证者进行ABO血型鉴定。应用PCR序列特异性引物(sequence specific primer,SSP)对标本进行ABO基因分型,并对其ABO血型基因第6、7外显子扩增后进行直接测序,确定其基因型。通过先证者家系调查进行遗传分析。结果先证者血清学正反定型结果不符,表现为B亚型,红细胞与抗B弱凝集,血清中存在抗B。PCR-SSP基因检测显示为B/O2,直接测序显示含有O等位基因和B等位基因,其中B等位基因在第7外显子存在905A>G突变,证实为Bx02等位基因。家系调查发现先证者父亲也携带该Bx02等位基因。结论对ABO血型血清学正反定型不符的标本,需要通过分子生物学方法进行检测,以保证ABO血型结果的准确性,为安全输血提供保障。
Objective To detect the molecular biology of samples with inconsistent positive and negative serological results for investigating their molecular basis and the inheritance for safe blood transfusion.Methods ABO blood group was identified by routine serological methods.The samples were genotyped by PCR sequence specific primer(SSP),and the exons 6 and 7 of ABO gene were amplified and sequenced directly to determine the genotype.Genetic analysis was carried out by means of family investigation.Results The positive and negative serological typing results of the proband were inconsistent.The proband showed subtype B,weak agglutination between red blood cells and anti-B,and anti-B existed in the serum.The result of PCR-SSP gene detection was B/O2.Direct sequencing showed that the proband had O allele and B allele.There was 905A>G mutation at exon 7 of B allele,which was confirmed to be Bx02 allele.Family investigation showed that the proband’s father also carried the Bx02 allele.Conclusion The samples with inconsistent positive and negative serological typing of ABO blood group need to be detected by molecular biological methods to ensure the accuracy of ABO blood group results for safe blood transfusion.
作者
武云香
赵沛喆
左江涛
郭瑞清
李志诚
徐熠
梁雅珺
张德梅
WU Yunxiang;ZHAO Peizhe;ZUO Jiangtao;GUO Ruiqing;LI Zhicheng;XU Yi;LIANG Yajun;ZHANG Demei(Blood Transfusion Technology Research Office of Taiyuan Blood Center,Taiyuan 030024,China)
出处
《山西医科大学学报》
CAS
2022年第4期491-494,共4页
Journal of Shanxi Medical University
基金
中国输血协会威高科研基金资助项目(CSBT-WG-2019-08)。
