Abstract: Objective To compare the application effects of PCR-SBT and TaqMan probe method in genotyping of HLA-E gene rs76971248 (promoter region NT-26) and rs1264457 (exon 3 NT+756), and to analyze the differences in the frequency distribution of the two SNP loci and their corresponding genotypes among healthy blood donors, hematological tumor patients, and solid tumor patients. Methods Whole blood samples were collected from 208 healthy blood donors, 111 hematological tumor patients and 100 solid tumor patients at Shenzhen Blood Center. DNA was extracted using a fully automatic nucleic acid extractor. Genotyping of the two SNP loci of HLA-E gene was performed by PCR-SBT and TaqMan probe method, respectively. Chi-square test was used to analyze the frequencies of SNP loci and genotypes among different populations using SPSS software. Results The genotyping results of the two methods were completely consistent, but the TaqMan probe method was less time-consuming to operate and did not require post-product purification and sequencing steps, making it more suitable for large-scale population genotyping. The frequency results of the two SNP loci among different populations showed that compared with healthy blood donors, the frequency of rs76971248 T in hematological tumor patients was significantly lower (P<0.05, OR=0.39), while there was no statistical difference in solid tumor patients (P>0.05).Regarding genotypes, the frequencies of rs76971248 G/G genotype and rs1264457 G/G genotype in hematological tumor patients were both significantly higher than those in healthy blood donors (P<0.05, OR=2.43; P<0.05, OR=1.98), whereas the frequencies of rs76971248 G/T genotype and rs1264457 A/G genotype were significantly lower than those in healthy blood donors (P<0.05, OR=0.40; P<0.05, OR=0.54). There were no statistical difference in the above genotype frequencies between solid tumor patients and healthy blood donors (P>0.05). Conclusion The TaqMan probe method has greater efficiency advantage in the rapid genotyping of HLA-E gene SNP and can be used as a preferred technology for large-scale tumor susceptibility screening. The rs76971248 T allele is a protective locus for hematological tumors, and the rs76971248 G/G genotype and rs1264457 G/G genotype are susceptible genotypes for hematological tumors.

Key words: HLA-E gene, PCR-SBT, TaqMan probe method, Hematological tumor, Solid tumor