CAJ | 학술논문

目的对1例ABO疑难血型样本进行血清型和基因型鉴定.方法用血清学方法对标本进行ABO血清型检测,根据血清型结果,选取ABO基因亚型检测试剂盒,用聚合酶链反应-序列特异性引物法进行基因亚型鉴定,用直接测序法对ABO基因的第6、7外显子进行序列测定.结果血清学结果显示,该样本的红细胞上具有高凝集强度的A抗原和中等凝集强度的B抗原,样本血浆中含有弱凝集强度的抗-B抗体,初步判定为ABw型;B亚型基因分型试剂的结果显示,该样本ABO基因为ABw12型;直接测序结果显示,该标本ABO基因第6外显子序列为278CT、297GA,第7外显子序列为467CT、526CG、657CT、703GA、796CA、803GC、930GA杂合,即在基因型A102/B101的基础上,该序列nt278位发生了C＞T杂合突变,经与血型抗原基因变异资料库的数据比对,确定突变的等位基因为Bw12,基因型为A102/Bw12.结论中国人群中发现A102/Bw12基因型.
목적 대1례ABO의난혈형양본진행혈청형화기인형감정.방법 용혈청학방법대표본진행ABO혈청형검측,근거혈청형결과,선취ABO기인아형검측시제합,용취합매련반응-서렬특이성인물법진행기인아형감정,용직접측서법대ABO기인적제6、7외현자진행서렬측정.결과 혈청학결과현시,해양본적홍세포상구유고응집강도적A항원화중등응집강도적B항원,양본혈장중함유약응집강도적항-B항체,초보판정위ABw형;B아형기인분형시제적결과현시,해양본ABO기인위ABw12형;직접측서결과현시,해표본ABO기인제6외현자서렬위278CT、297GA,제7외현자서렬위467CT、526CG、657CT、703GA、796CA、803GC、930GA잡합,즉재기인형A102/B101적기출상,해서렬nt278위발생료C＞T잡합돌변,경여혈형항원기인변이자료고적수거비대,학정돌변적등위기인위Bw12,기인형위A102/Bw12.결론 중국인군중발현A102/Bw12기인형.
Objective To determine the serotype and genotype of a sample with ABO blood group discrepancies.Methods Serotype was determined with serological method. Sequence specific primer polymerase chain reaction (SSP-PCR) was carried out based on the serotype.Sequences of exons 6 and 7 of ABO gene was analyzed by sequence-based testing (SBT).Results Completely agglutinated A antigen,half agglutinated B antigen and weak agglutinated anti-B antibody were detected in both erythrocytes and serum,which suggested presence of a ABw serotype.An A/Bw12 genotype was revealed by B subgroup detection.Sequences of exons 6 and 7 were 278CT,297GA and 467CT,526CG,657CT,703GA,796CA,803GC,930GA,respectively.The genotype fit with A102/B101 except for a nt278 C＞T mutation.Blood group antigen gene mutation database (BGMUT) search has confirmed the mutant allele to be Bw12.Conclusion An A102/Bw12 genotype has been found in the Chinese population.