SNP site for AB variant type (AwB) capable of triggering hemolytic transfusion reaction (HTR)

• Main Authors: HAN BIN, PANG SHUTAO, FENG ZHIHUI, LIU LI
• Format: Patent
• Language: Chinese; English
• Published: 26.03.2019
• 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 site for detecting the AB variant type (AwB) capable of triggering an acute or delayed hemolytic transfusion reaction (HTR). The SNP site is the 803 basic group starting from initiation codon in an ABO blood type gene encoding region, and is mutation with G being greater than C. The invention provides new use of AwB type gene detection of the ABO blood type, thus effective genetic diagnosis, prenatal genetic screening and genetic counseling paths for effectively avoiding the acute HTR are provided, the application effects show that the SNP site of the gene and detecting primers can be effectively used for peripheral blood of clinical patients for quickly detecting the gene mutation site of the ABO blood type AwB type. 本发明的目的是提供种用于检测引发急性或者迟发性溶血性输血反应的AB型变异型的SNP位点。为ABO血型基因编码区域由起始密码子起的第803位碱基，为G＞C的突变。本发明提供了ABO血型AwB型基因检测的新用途，从而提供了种有效的避免急性溶血性输血反应发生的基因诊断、产前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ABO血型AwB型基因突变位点的快速检测。