SPRR2E基因编码区单核苷酸多态性与银屑病

目的通过测定32个中国汉族人寻常性银屑病家系共157人SPRR2E基因的外显子编码区序列,研究SPRR2E基因与银屑病发病的关系。方法提取基因组DNA,对32个银屑病家系DNA进行扩增,产物经377DNA测序电泳仪电泳,用自动测序的方法测定SPRR2E基因的外显子编码区序列,并以ETDT及GENEHUNTER软件进行统计处理。结果SPRR2E基因编码区第156核苷酸( 156bp)处存在A或G二态性,可表现为AA纯合、GG纯合和AG杂合三种基因型,虽然该SNP不改变蛋白质编码,但它与银屑病存在传递不平衡,等位基因A优先传递给患病子代(P<0.05)。结论SPRR2E基因的外显子编码区中的一个核苷酸多态性与中国汉族人寻常性银屑病的发病相关联。

The Association of SPRR2E Encoding Sequence Polymorphism and Psoriasis Vulgaris

Objective To investigate the association of SPRR2E gene and psoriasis vulgaris by sequencing the DNA of Chinese Han psoriatic families. Methods DNA was extracted from the peripheral blood cells of thirty-two Chinese psoriatic families. The sequence of the SPRR2E encoding region was measured by ABI377 DNA Sequencer. The linkage disequilibrium was assessed by extended transmission disequilibrium test (ETDT) and GENEHUNTER software. Results An A/G polymorphism at nucleotide 156 of the SPRR2E encoding region was identified. There were three genotypes, including AA, GG and AG. Although the single nucleotide polymorphism (SNP) did not change the encoding of amino acid, the single nucleotide polymorphism locus was associated with psoriasis vulgaris by the ETDT analyzing. The A-allele was found to be transmitted more frequently than that of the G-allele. GENEHUNTER analysis was concordant with the results of the ETDT. Conclusion A single nucleotide polymorphism (SNP) in SPRR2E gene encoding region is associated with psoriasis vulgaris in Han Chinese population.