摘要
目的研究ABO血型表型与基因型不符的家系,分析产生该现象原因。方法采用试管法对微板法筛查出的正反定型不符血样做进一步血型血清学分析进行亚型确认。对亚型样本进行血清学分析和DNA测序,测序结果用软件比对分析后确定其基因型。结果从9 278份AB型无偿献血者血样中检出AB亚型血样6例(检出率为6.5/万),其中Ael B1例、AB34例、B(A)表型1例。1例AB3亚型个体,红细胞与标准抗-B血清凝集为1+混合视野,若按血清表现型可归为ABend;但是经基因测序其基因均为A101/B301,且父代和子代也均为典型B3亚型。结论 ABO亚型确认应采用血型血清学、分子生物学和遗传学相结合的检测方法;B亚型基因与正常的A基因结合在一起表现为α-1,3D-半乳糖转移酶活性的降低,使B抗原表达量减弱。
Objective To research the gene family of ABO phenotype failing to match the genetype and analyze its cause. Methods The positive typing and reverse typing？unconformity blood samples screened out by microplate test were given the further blood group serology analysis for subgroup confirmation by the test tube method, and the subgroup samples were giv- en the serological analysis and DNA sequencing, and the genetype was confirmed after analysis. Results 6 cases of AB sub- type blood samples were tested from 9 278 cases of unpaid blood donors whose blood type was AB, and the detection rate was 65 per thousand, including 1 case whose blood type was AelB, 4 cases whose blood type were AB3, and 1 case with B （A） phenotype, and 1 case with AB3 subtype, but all genes were A101/B301 after the gene sequencing, and the sire？genera- tion and filial generation were the typical B3 subtype. Conclusion ABO subtype confirmation should adopt the blood group serology, molecular biology and genetics, and the manifestation of subtype B gene and normal A gene is α-1, and the de- crease of 3D- galaetose transferase activity weakens the B antigen expression level.
出处
《中国卫生产业》
2016年第32期63-65,68,共4页
China Health Industry
