基于定量聚合酶链式反应技术的多囊卵巢综合征与促卵泡激素的受体基因多态性的相关性研究

目的  多囊卵巢是造成不孕和子宫内膜癌等疾病的重要因素之一，该研究目的是探索多囊卵巢与相关单核苷酸的多态性位点相关性。方法  该研究首先提出了一种改良的等位特异的定量聚合酶链式反应技术并对其进行了可靠性评估，随后对多囊卵巢患者和对照样本进行了卵泡刺激素受体基因两个单核苷酸的多态性位点进行了分型鉴定。结果  该研究结果显示其提出的改良的定量聚合酶链式反应方法进行单核苷酸的多态性位点分型准确度高，区分度好，与Sanger测序法获得的结果完全一致，能够很好的用于单核苷酸的多态性等多态性位点的分型鉴定；该实验对152例多囊卵巢患者和152例对照样本中卵泡刺激素受体基因两个单核苷酸的多态性位点分型检测结果显示Thr307Ala和Asn680Ser两个位点的等位基因频率和基因型频率均呈现了与多囊卵巢之间的显著相关性。结论  该研究结果表明卵泡刺激素受体基因的两个单核苷酸的多态性位点可能与多囊卵巢的发病密切相关，为深入探讨该疾病和进一步研究单核苷酸的多态性分型奠定了基础。

Association analysis of follicle-stimulating hormone receptor gene polymorphisms with polycystic ovarian syndrome

Objective To investigate the relationship between polycystic ovary syndrome (PCOS) and Follicle-stimulating hormone receptor. Methods Improved qPCR based SNP detection method was developed and used in genotyping of FSHR in PCOS. Validation was performed by Sanger sequencing. Results Results showed that it could be well genotyped by this qPCR based method, and all the results were consistent with Sanger sequencing. The distribution of the allele frequency and genotype frequency were significant differences between FSHR and PCOS, which indicated that the site of Thr307Ala and Asn680Ser might be closely related with PCOS. Conclusions It proves a novel method for SNP genotyping and the results denoted important foundation for SNP detection and PCOS investigation.