摘要
目的 了解本实验室检测出B(A)和cisAB血型的血清学特点及分子生物学遗传特性。方法 运用血型血清学和ABO血型测定方案,对山东地区献血者或医院病患送检的6例血液标本进行血型鉴定研究,并围绕其中2例开展家系调查。结果 6例标本经血清学初步鉴定B(A) 5例,cisAB 1例;基因检测和血清学结果非常接近,等位基因包括B(A)04等,均是和O杂合状态。对其中1例cisAB患者及其4名亲属进行血清学家系研究,先证者父亲为cisAB型,其余亲属均为O型;对另1例B(A)02/O1献血者及其3名亲属进行血清学及分子生物学家系研究,血清学结果为先证者父亲和弟弟B(A)型,母亲O型,其基因检测结果与血清学结果一致,先证者父亲基因型与先证者相同,弟弟基因型为B(A)02/O2,母亲基因型为O1/O2。结论 cisAB和B(A)血型通过血清学表型通常难以区分,需经基因检测确认。cisAB家系调查中共发现cisAB血型2例,B(A)家系调查中共发现B(A)血型3例。本地区cisAB和B(A)基因分型为cisAB01/O2、B(A)02/O1、B(A)02/O2、B(A)04/O1及B(A)04/O2。通过开展基因检测及家系调查,可准确鉴定出B(A)及cisAB亚型,为患者输血及献血者供血提供可靠依据,从而保障了临床输血的安全性。
Objective To investigate the serological and molecular genetic characteristics of B(A) and cisAB blood groups discovered in our laboratory.Methods ABO blood group serology and genetic tests were used to identify blood groups of 6 blood samples,submitted by blood center and hospitals in Shandong,and pedigree investigation was carried on 2 of them.Results Among the 6 samples,serological results were B(A) in 5 cases and cisAB in 1 case.The results of genetic tests were consistent with the serological results,as the alleles included B(A)04,B(A)02 and cisAB01,and all genotypes were heterozygous with O.Serological pedigree study was conducted on 2 samples:One cisAB patient with his 4 relatives(cisAB type father and three O type relatives) and one B(A)02/O1 donor with his 3 relatives[ B(A) type father/brother and O type mother).For B(A)02/O1 donor,the results of genetic testing were consistent with the serological results,as the paternal genotype was the same as that of the proband,the younger brother was B(A)02/O2,and the maternal genotype was O1/O2.Conclusion The cisAB and B(A) blood groups are often indistinguishable by serological phenotypes and require genetic confirmation.CisAB pedigree investigation revealed 2 cases of cisAB blood type and B(A) pedigree investigation revealed 3 cases of B(A).The genotyping of cisAB and B(A) in this region were cisAB01/O2,B(A)02/O1,B(A)02/O2,B(A)04/O1 and B(A)04/O2.B(A)and cisAB subtypes can be accurately identified through genetic testing and pedigree investigation,which can provide a reliable basis for blood transfusion selection and ensure the safety of clinical blood transfusion.
作者
沈云青
李京
潘英芳
周娜
徐群
SHEN Yunqing;LI Jing;PAN Yingfang;ZHOU Na;XU Qun(Blood Center of Shandong Province,Jinan 250014,China)
出处
《中国输血杂志》
CAS
2022年第7期697-701,共5页
Chinese Journal of Blood Transfusion
基金
山东省医药卫生科技发展计划(2019WS543)。
