多囊卵巢综合征女性rs700519位点芳香酶基因多态性及其与部分生化指标的关系

Rafea zaidan mukhlif alsugmiany, Tahany Mohammed Jabbar
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引用次数: 1

摘要

多囊卵巢综合征(PCOS)被认为是最常见的激素紊乱之一,可影响女性的生殖期,对生殖期和绝经后的生育能力有显著影响(Hanan et al., 2020)。本研究旨在解读PCOS与rs700519位点芳香化酶基因多态性以及某些生化变量之间的关系。该研究包括50份患有多囊卵巢综合征的女性血样和25份未患多囊卵巢综合征的女性血样,年龄从16岁到45岁不等。此外,该研究还探讨了与rs700519 snp相关的芳香化酶基因(CYP19A1)在患病和非患病女性中的多态性。芳香化酶基因(CYP19A1)的PCR产物在1%琼脂糖凝胶上的电泳分析表明,存在GG、GA、AA三种遗传模式。芳香化酶基因SNP CYP19A1 (rs700519)在PCOS女性和非PCOS女性中的等位基因频率分别为0.49和0.54,A等位基因的等位基因频率分别为0.51和0.46。在CYP19A1 rs700519位点突变A等位基因的比值比(OR)为0.818,遗传模式没有表现出任何显著的易感性
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Polymorphism of the Aromatase Enzyme Gene at the rs700519 Site and Its Relationship with Some Biochemical Variables in Women with Polycystic Ovary Syndrome
Polycystic Ovary Syndrome (PCOS) is identified as one of the most common hormonal disturbances that can affect females in their reproductive period, having significant implications on fertility observable during the reproductive span and post-menopause (Hanan et al., 2020). This study was designed to decipher the relationship between PCOS and the polymorphism of the aromatase gene at the rs700519 locus along with certain biochemical variables. The research comprised 50 blood samples from women afflicted with PCOS and 25 samples from non-afflicted women, spanning an age range of 16 to 45 years. Additionally, the study involved exploring the polymorphisms of the aromatase gene (CYP19A1) concerning SNPs rs700519 in both afflicted and non-afflicted women. The electrophoretic analysis of the PCR product on a 1% agarose gel for the aromatase gene (CYP19A1) indicated the presence of three genetic patterns (GG, GA, AA). The allele frequency for the aromatase gene SNP CYP19A1 (rs700519) in women with and without PCOS revealed values of 0.49 and 0.54 for the G allele, and 0.51 and 0.46 for the A allele, respectively. The genetic patterns did not exhibit any significant predisposition, with an Odds Ratio (OR) of 0.818 for the mutant A allele at the CYP19A1 rs700519 locus
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