2个新的ABO血型等位基因的发现和序列分析  

Discovery and Sequencing Analysis of Two Novel ABO Blood Group Alleles

作　　者：尹志柱 田丰 孙国栋[1] 燕锋[1] 董姗姗 高洁 高丽星 YIN Zhi-zhu;TIAN Feng;SUN Guo-dong(Handan Blood Center,Health Commission of Handan,Handan 056000)

机构地区：[1]邯郸市中心血站,056000

出　　处：《临床输血与检验》2020年第3期294-296,共3页Journal of Clinical Transfusion and Laboratory Medicine

摘　　要：目的 探讨4例ABO血型正反定型不符标本的遗传背景。方法 采用血型血清学方法对ABO正反定型不符标本进行亚型鉴定;采用PCR方法扩增ABO基因的7个外显子;采用测序方法对7个外显子进行直接测序。结果 血型血清学试验证实4例标本为ABO亚型,分别为:Bx(1例);ABx(1例);Ax(2例)。基因直接测序发现Bx和ABx在ABO~*B.01基础上1~6外显子未发生改变,仅在B等位基因第7外显子发生了449位核苷酸A>G的突变;2例Ax在ABO~*A1.01基础上1~6外显子未发生改变,仅在A等位基因第7外显子发生了467位核苷酸C>T的突变和798位插入了一个碱基T,以上的基因位点改变均导致了ABO血型的血清学表型变化,表现为ABO亚型。结论 研究揭示了4例ABO亚型的分子遗传背景。发现2个新的ABO血型等位基因,即:c.449A>G单基因位点突变,c.467C>T的突变和c.798insT单碱基插入。Objective To investigate the genetic background of ABO blood group-incompatible specimens in 4 cases.Methods The blood group serological test was used to identify the subtypes of ABO positive and negative stereotyping inconsistency;PCR was used to amplify 7 exons of the ABO gene;the sequence analysis was directly performed for 7 exons.Results The blood group serology test indicated that 4 specimens were ABO subtypes,namely Bx(1 case);ABx(1 case);Ax(2 cases).The genes by direct sequencing revealed that Bx and ABx change were not detected in exons 1~6 on the molecular basis of ABO*B.01,only the mutation at position 449A>G in exon 7 of B allele.The exons 1~6 change of 2 Ax cases were not detected on the molecular basis of ABO*A 1.01,only the mutation at position 467C>T and the insertion of a base T at position 798 in exon 7 of A allele.Changes in above gene loci resulted in changes in the serological phenotype of the ABO blood groups,which manifested as ABO subtype.Conclusion The study revealed the molecular genetic background of ABO subtypes in 4 cases.Two novel ABO alleles were found,namely c.449A>G single locus mutation,c.467C>T mutation and c.798insT single base insertion.

关 键 词：ABO亚型 血型血清学 直接测序 基因突变 

分 类 号：R331[医药卫生—人体生理学]