Establishment of A Rapid and Inexpensive Identification Method for HLA-B*58: 01 Genotype

A new method for polymorphism detection of rs9263726 site on Psoriasis Susceptibility1 Candidate1 (PSORS1C1) was established based on the pyrosequencing technology and the improved method of genomic DNA extraction from whole blood. The detection limit of the method was 0.4 ng μL−1 genomic DNA. A total of 20 samples were detected by pyrosequencing, and the results were consistent with those of Sanger sequencing. By gene-sequencing of 683 clinical samples with pyrosequencing method, the polymorphism distribution of rs9263726 in Chinese was summarized as GG (87.6%), GA (11.7%), and AA (0.7%). Besides, 46 clinical samples were detected to analyze the relationship between rs9263726 genotype and HLA-B*5801 genotype, and the results showed that the sensitivity of the method was 100%, and the specificity was 91.3%. This study demonstrated a new method for HLA-B*58:01genotyping.

This study demonstrated a new method for HLA-B*58:01 genotyping. Adopting pyrosequencing for detecting the genotypes of the locus rs9263726 rather than detecting HLA-B*58:01 through PCR-SBT allows to reduce the cost, shorten detection time, and avoid the occurrence of highly-fatal SJS/TEN syndrome induced by carrying HLA-B*58:01 genotype.Figure optionsDownload as PowerPoint slide