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目的研究孕激素受体(PR)基因+331G/A(rs10895068)与PROGINS(rs1042838)单核苷酸多态(SNP)以及雄激素受体(AR)基因CAG(GDB:185508)与GGN(GDB:197027)短串联重复(STR)多态与卵巢癌遗传易感性的关系。方法病例组为40例上皮性卵巢癌患者,对照组为48例健康女性,DNA测序方法分析两组的基因型,并比较不同基因型与卵巢癌发病风险以及分期、分级的相关性。结果病例组和对照组PR基因+331G/A位点均为GG型,未发现GA和AA型;两组PROGINS均为CC型,未发现CA和AA型;AR基因CAG和GGN重复次数在病例-对照组间无明显差异,但短组GGN重复使卵巢癌发病危险提高2.82倍(P<0.05);未发现病例组中卵巢癌分级、分期与STR分布相关(P>0.05)。结论 AR基因GGN重复多态与上皮性卵巢癌的发生明显相关,很可能是卵巢癌的致病因素之一。
Objective To study the association between the single nucleotide polymorphism (SNP) of PROGINS + 331G / A (rs10895068) and PROGINS (rs1042838) and the expression of GAG gene (GDB: 185508) : 197027) Relationship between Short Tandem Repeat (STR) Polymorphisms and Genetic Susceptibility to Ovarian Cancer. Methods Forty patients with epithelial ovarian cancer were enrolled in this study. The control group was 48 healthy women. The genotypes of the two groups were analyzed by DNA sequencing. The correlation between different genotypes and the risk of ovarian cancer and the staging and grading were compared. Results The + 331G / A site of PR gene in case group and control group were both GG type and no GA and AA genotypes were found. PROGINS in both groups were CC type, and CA and AA genotype were not found. The number of repeat of AR gene CAG and GGN in cases There was no significant difference between the control groups. However, the short GGN repeat group increased the risk of ovarian cancer by 2.82 times (P <0.05). There was no correlation between the staging of ovarian cancer and the distribution of STR in the case group (P> 0.05). Conclusion The GGN repeat polymorphism of AR gene is significantly associated with the occurrence of epithelial ovarian cancer and may be one of the causative factors of ovarian cancer.