【摘要】 本研究对1例产生抗A抗体的血清学正反定型不符的A血型标本进行血型血清学分析及基因分析,以了解其分子基础。采用试管法进行血型血清学的检测,采用PCR-SSP对A基因进行扩增分析,采用Sanger测序法对A血型糖基转移酶基因进行测序分析。结果表明:血清学正反定型不符,初定为A亚型;PCR-SSP扩增检测结果有O、A血型基因的存在;对ABO基因第6外显子测序发现存在c.261delG,显示有O基因;对A、O基因第7外显子进行特异性扩增测序分析显示,在A单倍型基因第7外显子出现c.467 C>T、c.626 G>A的突变,在O单倍型基因第7外显子出现c.646T>A、681G>A、771C>T、829G>A等突变。结论:该献血者在A基因第7外显子的c.626G>A是新的等位基因突变,c.467 C>T是SNP;新突变的GenBank序列号是KC690281,被BGMUT命名为1个新的A等位基因亚型A311。更多还原

【Abstract】 This study was purposed to analyses the serological and molecular basis of one sample of A blood group which has anti-A. The tube method was used to detect the blood group phenotype,the genotype was amplified by PCRSSP. The sequence of a-1-3-N-acetylgalactosaminyltransferase gene of blood group was determined by Sanger method.The results showed that serological results of blood group were discrepant. It was determined as A subtype firstly. The result of PCR-SSP showed the existence of O and A blood group gene. The sequencing result of the 6th exon of ABO gene showed the existence of c. 261delG,which refers to the O gene. The specific amplification sequencing analysis was carried out on the 7th exon of the O and A blood group gene. Two mutations in the 7th exon of the A gene haplotype,c. 467 C > T and c. 626 G > A,four mutations in the 7th exon of the O gene haplotype,c. 646T > A,681G > A,771C >T,829G > A had been detected. It is concluded that a novel allelic mutation c. 626 G > A in the 7th exon of A gene is explored. The Genbank access number of this novel mutation is KC690281. c. 467 C > T is SNP. The combination of two allele mutation of A gene is named as a new allelic subtype A311.更多还原