ABO基因第7外显子c.940A>G变异致AW37B亚型及其家系的调查分析  

Identification and pedigree analysis for an AW37B subtype due to c.940A>G variant of ABO gene

作　　者：李晓健[1] 黄象艳 武文 郭兴莹 Li Xiaojian;Huang Xiangyan;Wu Wen;Guo Xingying(School of Medical Laboratory,Weifang Medical University,Weifang,Shandong 261053,China;Department of Blood Transfusion,the 960th Hospital of PLA Joint Logistics Support Force,Jinan,Shandong 250031,China)

机构地区：[1]潍坊医学院医学检验学院,261053 [2]解放军联勤保障部队第九六〇医院输血医学科,济南250031

出　　处：《中华医学遗传学杂志》2021年第5期496-498,共3页Chinese Journal of Medical Genetics

摘　　要：目的分析1例Aw37B亚型患者及其家系的血清学和分子特征,探讨其分子生物学机制及在疑难血型鉴定和临床输血中的意义。方法应用序列特异性引物聚合酶链反应(PCR-sequence specific primer,PCR-SSP)进行ABO基因分型,并对ABO基因的全部外显子进行扩增产物直接测序。进一步对第6、7外显子进行克隆测序。结果先证者红细胞为A弱B表型,其血清样本中含有弱反应性抗-A抗体,依据血清学特征可定义为AwB血型。血型基因分型检测到A和B等位基因。基因克隆测序显示在A等位基因第7外显子存在ABO*AW.37的特征性变异c.940A>G,导致多肽链第314位的赖氨酸(Lys)被谷氨酸(Glu)替换。同时测序发现先证者的女儿遗传了ABO*AW.37等位基因。结论ABO血型基因第7外显子c.940A>G变异导致α-1,3-N-乙酰半乳糖基转移酶活性降低,产生Aw37表型。Objective To delineate the serological and molecular profiles of a patient with Aw37B subtype.Methods The ABO bloodtypes of the proband,his wife and daughter were determined with a standard serological method.Their ABO genotypes were determined by sequence-specific primer polymerase chain reaction(PCR-SSP).All exons of the ABO gene were directly sequenced.Exons 6 and 7 of the ABO gene were further analyzed by cloning and sequencing.Results The red blood cells of the proband showed a weak B phenotype.His serum sample contained weak reactive anti-A antibody,which was defined as AwB blood group based on the serological characteristics.The A and B alleles were detected by blood group genotyping.Gene cloning and sequencing have identified a characteristic c.940A>G variant(ABO*AW.37)in exon 7 of the ABO gene,which resulted in substitution of Lysine by Glutamate at position 314.The proband’s daughter has inherited the ABO*AW.37 allele.Conclusion The c.940A>G variant in exon 7 of the ABO gene probably underlay the decreased activity of GTA transferase and resulted in the Aw37 phenotype.

关 键 词：ABO基因 α-1 3-N-乙酰半乳糖基转移酶基因 AwB亚型 

分 类 号：R446.6[医药卫生—诊断学]