寻常性银屑病患者HAX-1基因多态性的研究

目的通过检测HAX-1基因序列研究基因多态性与银屑病的相关性。方法提取银屑病患者(247例)和正常人(102例)基因组DNA并进行扩增,通过自动测序的方法测定HAX-1基因及启动子区域的序列,检测其SNP位点,并以SPSS软件进行统计处理。结果①测序结果:测序总长度5313bp,发现1个位于5’UTR的高频SNP。②病例-对照关联分析结果:5’UTR区的SNP位点-104T>G多态性的T等位基因频率在寻常性银屑病患者组和正常对照组间的频率分别为53.4%和48.5%,在两组间无显著性差异(P>0.05)。结论银屑病患者与正常人HAX-1基因5’UTR区的SNP位点-104T>G基因频率无显著差异。

The Study on HAX-1 Gene Polymorphisms in the Patients with Psoriasis Vulgaris

Objective The relationship between single nucleotide polymorphisms of HAX-1 gene and psoriasis vulgaris in Chinese Hans was studied by sequencing DNA. Methods DNA samples were extracted from peripheral blood in 247 Chinese sporadic psoriasis patients and 102 normal controls. The gene sequence and the promoter region of HAX-1 were measured and SNPs of them were further genotyped. Related studies were carried out with the SPSS software. Results ① The results of DNA sequencing: One high frequency SNP was found in the 5′untranslated region of HAX-1 gene which the total sequence is 5313bp. ② The results of case-control study: The genotypic frequencies of SNP-104T>G were no significant difference between psoriasis and control group(P>0.05) although the T allele frequency in psoriasis vulgaris (53.4%) was higher than that in the normal control group (48.5%).Conclusion The genotypic frequencies of SNP-104T>G in HAX-1 gene 5′UTR region were no significant difference between psoriasis and control group.