【摘要】 目的分析1例ABO正反定型不符标本的血型血清学特征,并探讨其ABO基因的分子机制。方法采用血型血清学试验分析该例标本ABO表型,通过ABO基因第6、7外显子测序确定其基因型。结果血型血清学试验检测疑为B亚型。ABO血型基因测序分析发现第7外显子502位存在C>T突变,基因型为Bel03O02。结论ABO基因第7外显子502 C>T突变导致168位精氨酸被色氨酸替换,可能使α-1,3-D-半乳糖基转移酶活性降低,从而形成Bel03亚型。更多还原

【Abstract】 Objective To analyze the ABO serological characteristics of a sample with discrepancies of serological tests, and to explore the molecular mechanism of ABO gene. Methods ABO phenotype of the sample was detected by serological tests. Exon 6 and 7 at ABO gene was sequenced to comfirm the genotypes. Results The sample was suspected as belonging to B subtype. The genotype was identified as Bel03 O02 which with 502 C>T mutation in exon 7.Conclusion The mutation of the allele,in which the nucleotide alters from C to T at position of 502 in exon 7 results in an amino acid change from Arg to Trp,that is expected to diminish the activity of α-1,3-D-galactosyltransferase,and result in the Bel subtype.更多还原