单位：[a]Department of Blood Transfusion, Chinese PLA General Hospital, Beijing, China[b]Department of Blood Transfusion, Beijing Friendship Hospital, Capital Medical University, Beijing, China医技科室输血科输血科首都医科大学附属北京友谊医院[c]Maternity and Child Care Hospital of Jinan, Shandong, China[d]Blood Center of Zhejiang Province, Hangzhou, China[e]Zhejiang Provincial Key Laboratory of Blood Safety Research, Hangzhou, China
Background:Individuals with the CisAB phenotype are rare in the Chinese population. In the present study, we investigated the sequence of theABOgene and family members of a newborn suspected to have the CisAB phenotype.Methods:The ABO phenotype was detected using conventional serological tests. The full coding region of exons 1 to 7 of theABOgene was amplified by polymerase chain reaction and was sequenced. TheABOhaplotype was determined by the allele-specific primer sequencing method.Results:The proband and his father and grandfather were assigned the CisAB phenotype according to the results of the serological tests and family investigation. A novelCisABallele was identified in the proband and his father and grandfather, which has only one nucleotide difference at position 796 from A to C (c.796A>C) compared with theABO*B.01allele.Conclusion:A novelCisAB(c.796A>C mutation inABO*B.01) allele is the first identified in the Chinese population.
基金：
National Natural Science Foundation of China General ProgramNational Natural Science Foundation of China (NSFC) [81770194]
第一作者单位：[a]Department of Blood Transfusion, Chinese PLA General Hospital, Beijing, China[b]Department of Blood Transfusion, Beijing Friendship Hospital, Capital Medical University, Beijing, China
通讯作者：
通讯机构：[a]Department of Blood Transfusion, Chinese PLA General Hospital, Beijing, China[d]Blood Center of Zhejiang Province, Hangzhou, China[e]Zhejiang Provincial Key Laboratory of Blood Safety Research, Hangzhou, China[*1]Department of Blood Transfusion, Chinese PLA General Hospital, No. 28 Fuxing Road, Beijing 100039 (China)[*2]Blood Center of Zhejiang Province, No. 789 JianYe Road, Hangzhou, Zhejiang 310052 (China)
推荐引用方式(GB/T 7714)：
Xiaofei Li,Huiwen Bi,Liping Sun,et al.A Novel c.796 A > C Mutation in the ABO*B.01 Allele Responsible for CisAB Phenotype[J].TRANSFUSION MEDICINE and HEMOTHERAPY.2020,47(4):288-290.doi:10.1159/000501107.
APA：
Xiaofei Li,Huiwen Bi,Liping Sun,Faming Zhu&Deqing Wang.(2020).A Novel c.796 A > C Mutation in the ABO*B.01 Allele Responsible for CisAB Phenotype.TRANSFUSION MEDICINE and HEMOTHERAPY,47,(4)
MLA：
Xiaofei Li,et al."A Novel c.796 A > C Mutation in the ABO*B.01 Allele Responsible for CisAB Phenotype".TRANSFUSION MEDICINE and HEMOTHERAPY 47..4(2020):288-290
