CAJ | 학술논문

目的探讨1例ABO亚型cisAB06的血清学和分子遗传特征.方法应用单克隆抗体检测1例ABO正反定型不符的患者红细胞ABO抗原,标准A、B、O红细胞检测血清中ABO抗体.用序列特异性引物-聚合酶链反应进行ABO基因分型.用PCR技术特异性扩增A、B基因第6～7外显子,PCR产物纯化后直接测序分析.结果患者红细胞有A、B抗原,同时血清中存在抗A抗体.聚合酶链反应-序列特异性引物基因分型结果为B/O02型,直接测序结果为cisAB06型,与B101基因序列比对仅在第526位发生G＞C的突变(c.526G＞C),该位点的突变导致176位甘氨酸变成精氨酸(p.R176G).结论 B等位基因c.526G＞C突变形成cisAB06等位基因,其血清学表现为AB型.
목적 탐토1례ABO아형cisAB06적혈청학화분자유전특정.방법 응용단극륭항체검측1례ABO정반정형불부적환자홍세포ABO항원,표준A、B、O홍세포검측혈청중ABO항체.용서렬특이성인물-취합매련반응진행ABO기인분형.용PCR기술특이성확증A、B기인제6～7외현자,PCR산물순화후직접측서분석.결과 환자홍세포유A、B항원,동시혈청중존재항A항체.취합매련반응-서렬특이성인물기인분형결과위B/O02형,직접측서결과위cisAB06형,여B101기인서렬비대부재제526위발생G＞C적돌변(c.526G＞C),해위점적돌변도치176위감안산변성정안산(p.R176G).결론 B등위기인c.526G＞C돌변형성cisAB06등위기인,기혈청학표현위AB형.
Objective To investigate serological and genetic characteristics for an individual with cisAB06,an ABO blood subtype.Methods Antigens on red blood cells from the ABO blood group discordant individual were validated by monoelonal antibodies.The ABO antibodies in serum were validated by standard A,B,O cells.ABO genes were analyzed by polymerase chain reaction-sequence specific primer (PCR-SSP).Exons 6～ 7 of A/B genes were amplified with specific PCR,and the products were directly sequenced.Results Both A and B antigens were detected on red blood cells from the proband.There was also anti-A antibody in the serum.The result of PCR-SSP was B/O02 phenotype.Direct sequencing revealed that the gene was cisAB06.Compared with B101 allele,the cisAB06 allele featured a single nucleotide change (G＞C) at position 526 which resulted in an amino acid substitution (G176R).Conclusion G＞C at nt526 ofB allele can produce a cisAB06 allele.The serological phenotype of the specimen is therefore type AB.