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目的探讨糖化终末产物受体(receptor of advanced glycation end products,RAGE)基因单核苷酸多态性(single nucleotide polymorphism,SNP)位点与多囊卵巢综合征(polycystic ovarian syndrome,PCOS)的关系。方法 PCOS患者326例(PCOS组),同期体检健康女性344例(对照组),提取DNA,登录美国国立生物技术信息中心(National Center for Biotechnology Information)数据库和人类基因组单体型图计划数据库,应用HaPloview 4.2软件查找RAGE基因标签SNP,PCR扩增后通过Sanger法测序对RAGE基因SNP标签位点进行分型,比较2组RAGE基因标签位点SNP、最小等位基因频率(minor allele frequency,MAF)分布情况。结果 PCOS组rs2070600、rs184003位点MAF(23.47%、38.50%)明显高于对照组(18.75%、29.94%)(P<0.05),rs1800624、rs1800625和rs55640627位点MAF(13.04%、13.19%、9.36%)与对照组(15.70、15.26%、8.43%)比较差异均无统计学意义(P>0.05);2组RAGE基因rs2070600、rs184003位点基因型分布比较差异有统计学意义(P<0.05),rs1800624、rs1800625和rs55640627位点基因型分布比较差异无统计学意义(P>0.05)。结论 RAGE基因rs184003和rs2070600位点可能与PCOS的发病相关。
Objective To investigate the relationship between single nucleotide polymorphism (SNP) of receptor of advanced glycation end products (RAGE) gene and polycystic ovarian syndrome (PCOS) . Methods A total of 326 patients with PCOS (PCOS group) and 344 healthy women (control group) were enrolled in the study. DNA was extracted and registered in the National Center for Biotechnology Information and Human Genome Histogram Planning Database. HaPloview 4.2 software was used to search RAGE gene tag SNP. After Rana gene sequencing, the RAGE gene SNP tagging site was typed by Sanger sequencing. The SNP of RAGE gene tagging site, minor allele frequency (MAF) Distribution. Results The MAF (23.47%, 38.50%) of rs2070600 and rs184003 in PCOS group was significantly higher than that in control group (18.75%, 29.94%) (P <0.05), and the rs1800624, rs1800625 and rs55640627 sites were 13.04%, 13.19% and 9.36 (P> 0.05). There was no significant difference in the distribution of rs2070600 and rs184003 between the two groups (P <0.05) , rs1800624, rs1800625 and rs55640627 loci genotype distribution difference was not statistically significant (P> 0.05). Conclusion RAGE rs184003 and rs2070600 sites may be related to the pathogenesis of PCOS.