双重复合型ABO糖基转移酶分子基础与表达产物的分析

Analysis on Expression and Molecular Basis for ABO Glycosyltransferase with Dual Specificity

为了查明ABO基因表达产物和分子遗传学背景,对7例ABO血型正反定型不相符、经初步分子生物学分析出现双重复合型ABO基因的血液标本进行了研究。血清学表达型运用单克隆、多克隆抗体鉴定,基因分型运用PCR产物直接和单倍体特异性引物法进行ABO基因的序列测定。结果表明:在中国人群中鉴定出6种具双重复合编码功能的ABO等位基因,B(A)和cis-AB血清型所表达的A抗原特征随着个体的不同而有所差异。结论:4个标本中有2对样本有不同的抗原表达却有着相同的ABO分子生物学基础。

In order to elucidate the expression and molecular genetic background of ABO gene seven samples with ABO discrepancy further identified as bi-specific ABO gene were studied. All these samples were subjected to phenotyping by monoclonal and polyclonal antisera and were then genotyped by direct DNA sequencing and haplotype- sequencing at the exon 6 and 7 of ABO gene, As a result, six ABO dual-specific alleles were identified in Chinese population, An antigen expressed by these B （A） or Cis-AB individuals varied from very low level to the normal level , compared with common A blood group samples. In conclusion, molecular genetic backgrounds of two pairs out of four samples in all samples were the same, however, the ABO expression showed diverse.