CAJ | 학술논문

目的：研究ABO血型A201等位基因表达A抗原活性。方法运用血型血清学方法对1家2代3人的唾液及血液标本的ABO血型进行检测；运用Identifiler法医基因分析试剂盒作为亲缘关系鉴定；PCR扩增ABO基因后，对所有外显子做DNA测序分析，运用PCR-RFLP法进行同步检测A201等位基因中的序列变异。结果亲缘关系鉴定在Identifiler的15个遗传标记系统中显示，父母可以将所有的等位基因提供给子女，确定具有亲缘关系；然而运用不同来源的3份抗体对ABO血型进行检验时，却出现了正定型否定了母子关系，反定型无法排除母子关系的现象。3个标本ABO基因的测序：父、母、子的基因型分别为O01/O01、A201/B101及A201/O01，符合反定型结果，这就说明A201等位基因在A表型及AB表型中表达的A抗原活性差异显著。运用PCR-RFLP法可将A201等位基因中的2个主要变异点1059-1061delC和467C/T。结论 ABO血型A201基因在AB及A表型中表达A抗原活性，可由于检测抗体不同出现一定的差异；基因测序与PCR-RFLP法进行同步分析能够快速简便的鉴定A201等位基因中的1059-1061delC和467C/T。
목적：연구ABO혈형A201등위기인표체A항원활성。방법운용혈형혈청학방법대1가2대3인적타액급혈액표본적ABO혈형진행검측；운용Identifiler법의기인분석시제합작위친연관계감정；PCR확증ABO기인후，대소유외현자주DNA측서분석，운용PCR-RFLP법진행동보검측A201등위기인중적서렬변이。결과친연관계감정재Identifiler적15개유전표기계통중현시，부모가이장소유적등위기인제공급자녀，학정구유친연관계；연이운용불동래원적3빈항체대ABO혈형진행검험시，각출현료정정형부정료모자관계，반정형무법배제모자관계적현상。3개표본ABO기인적측서：부、모、자적기인형분별위O01/O01、A201/B101급A201/O01，부합반정형결과，저취설명A201등위기인재A표형급AB표형중표체적A항원활성차이현저。운용PCR-RFLP법가장A201등위기인중적2개주요변이점1059-1061delC화467C/T。결론 ABO혈형A201기인재AB급A표형중표체A항원활성，가유우검측항체불동출현일정적차이；기인측서여PCR-RFLP법진행동보분석능구쾌속간편적감정A201등위기인중적1059-1061delC화467C/T。
Objective To study the ABO blood group A antigen expression in A201 allele activity. Methods Using serological methods, a two-generation three human saliva and blood samples were used to detect ABO blood. Forensic genetic analysis using Identifiler kit was used as kinship identification including PCR amplification ABO gene,exons do for all DNA sequencing,PCR-RFLP method using synchronous detection of sequence variation A201 allele. Results Identification of the genetic relationship of 15 genetic markers was performed using Identifiler system, which shows that parents can have all the alleles,be available to children determined to have kinship. However,after the use of three different sources of ABO blood group antibodies,they appeared the mother-child relationship was negated stereotypes. Stereotypes against the phenomenon of mother-child relationship can not be excluded. Three specimens of the ABO gene sequencing:father,mother,son genotypes were O01/O01, A201/B101 and A201/O01,which is compliance reverse grouping results,and indicates that A201 allele A and AB phenotype an antigen ex_pressed in activity. The expression was significantly different. PCR-RFLP method can be A201 allele variation in the two main points 1059 -1061delC and 467C/T. Conclusion ABO blood group gene in A201 AB and A-A antigen expression phenotypes activity may be due to different detection antibody,which appeared some differences. Gene sequencing and PCR-RFLP method for simultaneous analysis can be quickly and eas_ily identified in the 1059 A201 allele -1061delC and 467C / T.