SNP locus causing A subtype of ABO blood group system and application thereof

• Main Authors: JIANG ZHI, PANG SHUTAO, YANG ZHONGSI, FENG ZHIHUI
• Format: Patent
• Language: Chinese; English
• Published: 30.04.2024
• Subjects: BEER; BIOCHEMISTRY; CHEMISTRY; COMPOSITIONS OR TEST PAPERS THEREFOR; COMPOSITIONS THEREOF; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES; CULTURE MEDIA; ENZYMOLOGY; MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS; METALLURGY; MICROBIOLOGY; MICROORGANISMS OR ENZYMES; MUTATION OR GENETIC ENGINEERING; PROCESSES OF PREPARING SUCH COMPOSITIONS; PROPAGATING, PRESERVING OR MAINTAINING MICROORGANISMS; SPIRITS; VINEGAR; WINE

The invention aims to provide an SNP (Single Nucleotide Polymorphism) site for detecting acute hemolytic transfusion reaction caused by A subtype variation of an ABO blood group system. The SNP site is a 248th basic group of a 6th exon from an initiation codon in a new A subtype allele coding region. The invention provides a new application of the A subtype gene, so that an effective way for rapid gene diagnosis, gene screening and genetic counseling of an acute intravascular hemolytic transfusion reaction which can be triggered is provided; the application effect shows that the SNP site of the gene and the detection primer provided by the invention can be effectively used for rapid detection of new A subtype gene mutation sites in peripheral blood of clinical patients. 本发明的目的是提供一种用于检测ABO血型系统A亚型变异型引发的急性溶血性输血反应的SNP位点，为新的A亚型等位基因编码区域位于起始密码子起第6外显子第248位碱基。本发明提供了A亚型基因的新的用途，从而提供了一种有效的对能够引发的急性血管内溶血性输血反应的快速基因诊断、基因筛查及遗传咨询的途径，应用效果表明本发明所提供的基因的SNP位点及检测引物可以有效的用于临床患者外周血进行新的A亚型基因突变位点的快速检测。