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目的探讨Ax亚型中国汉族家系的ABO基因的分子生物学特点。方法采用序列特异性引物聚合酶链反应扩增法对血清学定为Ax血型的家系总共5份样本做基因分型,对其中4份样本进行直接测序,发现2份有异常杂合序列,进一步采用单倍体特异性引物进行序列测定。结果这个家系中2份ABO基因序列与ABOA101相比有3个位点发生了突变(467C>T、829G>A,1009A>G),定为Ax新基因,Genbank注册号为DQ092380。结论829位突变导致编码ABO糖基转移酶的277位氨基酸由缬氨酸(Val)转变为甲硫氨酸(Met),很大程度上降低了A2糖基转移酶的活性。推测277位氨基酸处于ABO血型基因编码的转移酶的活性区域。
Objective To investigate the molecular biology of ABO gene in Ax subtype Chinese Han pedigree. Methods A total of 5 pedigrees of serogroups Ax blood type were genotyped by using sequence-specific primer polymerase chain reaction amplification. Four of them were directly sequenced and found to have 2 abnormal hybrid sequences Haplotype-specific primers were used for sequencing. Results Two of the ABO gene sequences in this pedigree were mutated in ABOA101 (467C> T, 829G> A, 1009A> G), designated Ax as new gene, and Genbank accession number was DQ092380. Conclusion The mutation at position 829 resulted in the conversion of amino acid 277, which encodes ABO glycosyltransferase, from val (Val) to methionine (Met), greatly reducing the activity of A2 glycosyltransferase. It is speculated that amino acid 277 is in the active region of the transferase encoded by the ABO blood group gene.