B亚型新等位基因803delC的分子生物学研究  

Molecular analysis of the new allele 803delC of subtype B

作　　者：王立萍[1] 于晓梅 李书杰 李希 冀宝军[1] 李新菊[1] 孙福廷[1] WANG Liping;YU Xiaomei;LI Shujie;LI Xi;JI Baojun;LI Xinju;SUN Futing(Blood Transfusion Department,Weifang People′s Hospital,Weifang 261041,China)

机构地区：[1]潍坊市人民医院输血科,山东潍坊261041

出　　处：《中国输血杂志》2024年第3期344-347,共4页Chinese Journal of Blood Transfusion

基　　金：山东省潍坊市卫生健康委员会项目(WFWSJK-2022-219)。

摘　　要：目的分析研究1例新的B亚型等位基因血清学特点和分子生物学机制。方法应用血清学方法检测患者ABO血型。应用序列特异性引物-聚合酶链反应(PCR-SSP)检测ABO血型基因。应用Sanger基因序列分析检测ABO基因1~7外显子编码区域,确定基因突变位点。结果血清学鉴定患者正定型为O型,反定型为B型。PCR-SSP基因分型结果为A/O型,存在A基因,与血清学结果不符。进一步Sanger双链测序结果显示该标本在ABO^(*)B.01/ABO^(*)O.01.01的基础上,第7外显子803位置缺失C碱基。该突变最终导致多肽链上发生p.Ala268Gly和p.Phe269Ser的氨基酸替换,并且从269位置开始产生新的开放阅读框,新的开放阅读框第20号氨基酸为终止密码子,导致B基因表达终止。进一步ABO基因克隆测序证明该突变点位于ABO*B.01基因上,该突变已提交NCBI数据库,收录编号为OR343908。结论在中国人群中发现1种新的导致B变异型的ABO等位基因,基因检测方法可辅助鉴定血清学正、反定型不符的疑难血型。Objective To analyze the serological characteristics and molecular mechanism of a novel B subtype allele 803delC.Methods ABO blood group was detected by serological method.Sequence-specific primer polymerase chain reaction(PCR-SSP)was used to detect ABO blood group genes.The coding region of exon 1-7 of ABO gene was detected by Sanger sequencing to determine the mutation site.Results Serological identification of patients was with forward O-type and reverse B-type.The result of PCR-SSP genotyping was A/O.There was A gene,which was not consistent with serological results.Further Sanger double-strand sequencing revealed that the C-base was deleted at position 803 of exon 7 on the basis of ABO^(*)B.01/ABO^(*)O.01.01.The mutation eventually leads to the amino acid substitution of p.Ala268Gly and p.Phe269Ser and the production of new open reading frame starting at position 269,with the new open reading frame No.20 amino acid being stop codon,resulted in the termination of B gene expression.Further single-strand sequencing of the ABO gene revealed that the mutation was located in the ABO*B.01 gene.The mutation was submitted to the NCBI database with the number OR343908.Conclusion A new ABO allele leading to B variant has been found in Chinese population.Genetic detection can be used to identify the ambiguous blood group with discrepancy between forward and reverse blood grouping.

关 键 词：B亚型 新等位基因 基因序列分析 血清学 疑难血型 

分 类 号：R392.7[医药卫生—免疫学]