CAJ | 학술논문

目的研究ABO血型系统CisAB01亚型的分子机制,并探讨该亚型红细胞表面A和B抗原的表达情况.方法对5例ABO血型正反定型不符的无偿献血者或患者,通过血清学技术、ABO基因直接测序及TA克隆单体型分析对该血型进行相关研究.应用相关生物学软件对突变位点引起的酶结构和功能变化进行分析,并采用流式细胞术分析红细胞表面A和B抗原的表达情况,同时取正常AB型血的献血者80名作为对照.结果发现5例CisAB01亚型,该亚型ABO基因第7外显子467C＞T、803G＞C突变,分别引起多肽链P156L和G268A替换.5例标本红细胞表面A抗原平均荧光强度(mean fluorescenceintensity,MFI)为135,对照组A抗原MFI则为172;5例标本红细胞表面B抗原MFI为38,对照组B抗原MFI则为164.结论 ABO基因803G＞C突变可能是导致CisAB01亚型的分子遗传基础,该亚型红细胞表面表达几乎正常的A抗原和少量B抗原.
목적 연구ABO혈형계통CisAB01아형적분자궤제,병탐토해아형홍세포표면A화B항원적표체정황.방법 대5례ABO혈형정반정형불부적무상헌혈자혹환자,통과혈청학기술、ABO기인직접측서급TA극륭단체형분석대해혈형진행상관연구.응용상관생물학연건대돌변위점인기적매결구화공능변화진행분석,병채용류식세포술분석홍세포표면A화B항원적표체정황,동시취정상AB형혈적헌혈자80명작위대조.결과 발현5례CisAB01아형,해아형ABO기인제7외현자467C＞T、803G＞C돌변,분별인기다태련P156L화G268A체환.5례표본홍세포표면A항원평균형광강도(mean fluorescenceintensity,MFI)위135,대조조A항원MFI칙위172;5례표본홍세포표면B항원MFI위38,대조조B항원MFI칙위164.결론 ABO기인803G＞C돌변가능시도치CisAB01아형적분자유전기출,해아형홍세포표면표체궤호정상적A항원화소량B항원.
Objective To explore the molecular mechanism of CisAB01 subtype in the ABO blood group system,and to investigate the expression of A and B antigens in red blood cells (RBCs).Methods For 5 unrelated individuals with the CisAB phenotype,the molecular basis for the blood type was studied with serological assay,DNA sequencing and haplotype analysis.Bioinformatics analysis was carried out to investigate the changes in structure and function of relevant enzymes.Expression of A and B antigens in RBCs of CisAB01 was detected by flow cytometry.Results All of the 5 samples were found to have a CisAB01 subtype.The underlying mutations,467C＞T and 803G＞C in exon 7,have resulted in replacement of amino acid P156L and G268A.The mean fluorescence intensity (MFI) of A antigen in CisAB01 cases was 135,while the control group was 172.The B antigens in CisAB01 cases (MFI =38) showed significant decrease in MFI compared with the control group (MFI=164).Conclusion 803G＞C mutation of the ABO gene probably underlies the CisAB01 subtype.Fluorescence intensity of A antigens in CisAB01 subtype cases is slightly lower than the normal type,while the B antigen was significantly lower.