摘要目的 探讨1例ABO血型CisAB亚型的基因突变情况.方法 应用PCR技术扩增先证者ABO基因第5～7外显子序列进行双向测序分析,并应用单链扩增技术对先证者ABO基因第6～7外显子序列进行测序分析.结果 先证者血清学特性为ABO亚型.ABO基因双链测序分析显示先证者220CT、261G/del、297AG、467CT、646AT、681AG、771CT、803GC、829AG、1009AG杂合,可能为CisAB01 var/O02.单链扩增测序结果显示先证者ABO基因型中一个等位基因为O02,另一个等位基因为CisAB0 var.CisAB0 var与A102相比,存在803G＞C和1009A＞G突变,导致268位甘氨酸变成丙氨酸、337位精氨酸变成甘氨酸.结论 发现1例CisAB01亚型;与A102比较,其α-1,3-N-乙酰半乳糖胺转移酶基因存在803G＞C和1009A＞G变异.

abstractsObjective To explore the molecular basis for an individual with CisAB subtype of the ABO blood group.Methods ABO antigen and serum antibody of the proband were detected with a serological method.Exons 5 to 7 of the ABO gene were amplified with PCR and sequenced bidirectionally.Allele-specific amplification for exon 6 to 7 was also carried out.Results The proband was assigned as a CisAB phenotype based on his serological characteristics.Heterozygous variations including 220C/T,261G/del,297A/G,467C/T,646A/T,681A/G,771C/T,803G/C,829A/G and 1009A/G of the ABO gene were identified through direct sequencing,which was assigned as CisAB01var/O02 genotype.Allele-specific amplification indicated that the proband carried an O02 allele and a CisAB01var allele.Compared with A102,the CisAB01var allele has two nucleotide substitutions at 803G＞C and 1009A＞G,which resulted in replacement of amino acid Gly by Ala at position 268 and Arg by Gly at position 337.Conclusion The CisAB subtype was identified with 803G ＞ C and 1009A ＞ G variants in the α1,3-N-acetyl-galactosaminyltransferase gene compared with that of the A102 allele.