一例Bw11亚型的鉴定及分子生物学分析  

Identification and analysis of a case with Bw11 subtype

作　　者：赵媛[1] 冯强 赵一贺 李代红[1] Zhao Yuan;Feng Qiang;Zhao Yihe;Li Daihong(Department of Blood Transfusion,Tianjin First Central Hospital,Tianjin 300192,China;Department of Blood Transfusion,Tongchuan People’s Hospital,Tongchuan Shaanxi 727000,China)

机构地区：[1]天津市第一中心医院输血科,300192 [2]铜川市人民医院输血科,陕西727000

出　　处：《中华医学遗传学杂志》2020年第10期1179-1182,共4页Chinese Journal of Medical Genetics

摘　　要：目的分析一例Bw11亚型的血清学和分子生物学特征。方法应用经典试管法、微柱凝胶法和吸收放散法检测ABO抗原和血清中存在的ABO抗体。应用序列特异引物(sequence-specific primer,SSP)引导的聚合酶链反应进行ABO基因分型,进一步测序分析ABO基因第1~7外显子核苷酸序列,对发生变异外显子进行单倍型分析。结果微柱凝胶法正反定型相符提示为O型;经典试管法正反定型不符;吸收放散实验证实存在B抗原;抗体筛查排除同种抗体存在。SSP基因分型为B/O1;第6、7外显子测序与B101/O01基因序列比对存在第7外显子695T>C变异,导致232位亮氨酸转变为脯氨酸,证实为Bw11/O1杂合子。结论nt695T>C变异可能是导致B抗原减弱的分子遗传机制。Bw11亚型可能存在较强抗B抗体,人源及部分单克隆试剂不能检测出Bw11亚型易被误判为O型,应用分子生物学方法有助于ABO亚型的准确鉴定。Objective To analyze serological and molecular characteristics of a case with Bw11 subtype.Methods The ABO antigen and antibody in serum were respectively detected with the classical tube method,microcolumn gel method,and absorption and diffusion method.The ABO genotype was determined with PCR using sequence-specific primers(PCR-SSP).Exons 1-7 of the ABO gene were analyzed by Sanger sequencing.Haplotype analysis was carried out for exons harboring variants.Results Forward and reverse typing with the microcolumn gel method has suggested type O,while forward and reverse typing with the classical tube method yielded inconsistent results.Absorption and diffusion test confirmed presence of B antigen.Antibody screening excluded presence of alloantibodies.The result of PCR-SSP suggested a B/O1 genotype.A 695T>C variant was identified in exon 7 as compared with the B101/O01 allele,which resulted in conversion of Leucine to Proline at position 232,and was confirmed as Bw11/O1 heterozygote.Conclusion The nt695T>C variant probably underlay the weakening of B antigenin the individual.There may be strong anti-B antibodies in Bw11 subtypes.Human-derived and certain monoclonal reagents may not detect Bw11 subtypes which is easy to be misjudged as type O.Application of molecular methods can identify ABO subtypes with accuracy.

关 键 词：Bw11亚型 ABO基因 血清学 分子生物学 

分 类 号：R457.11[医药卫生—治疗学]