中文摘要：

采用焦磷酸测序技术和改进的全血基因组提取方法,建立了位于6号染色体的银屑病易感基因1候选基因1（Psoriasis susceptibility 1 candidate 1,PSORS1C1）rs9263726位点的焦磷酸测序方法,检出限达到0.4 ng/μL基因组DNA,20例标本的焦磷酸法和Sanger法测序结果完全一致。利用本方法对683例标本的rs9263726位点进行测序,得到中国人群该位点野生型（GG型）分布频率为87.6%,突变的GA型分布频率为11.7%、AA型分布频率为0.7%。通过对随机选取的46例标本rs9263726位点与人类白细胞抗原基因HLA-B＊58∶01基因型的连锁关系进行分析,结果表明,该位点预测HLA-B＊58∶01基因型的灵敏度为100%、特异性为91.3%。本方法可用于HLA-B＊58∶01基因型的检测。

英文摘要：

A new method for polymorphism detection of rs9263726 site on Psoriasis Susceptibilityl Candidatel （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/p.L genomic DNA. A total of 20 samples were detected by pyrosequeneing, and the results were consistent with those of Sanger sequencing. A total of 683 clinical samples were analyzed with pyrosequencing method. The polymorphism distribution of rs9263726 in Chinese populations was summarized as GG （87.6%）, GA （11.7%） and AA （0.7%）. 46 clinical samples were detected to analyze the relationship between rs9263726 genotype and human leukocyte antigen gene HLA-B ＊ 58：01 genotype. The results showed that the genotype of HLA-B ＊ 58：01 could be predicted by polymorphism detection of rs9263726 site sequence. The sensitivity of the proposed method was 100% , and the specificity was 91.3%. This study demonstrated a new method for HLA-B ＊ 58：01 genotyping.