Liović M, Prezelj J, Kocijancic A, Majdic G, Komel R
Medical Center for Molecular Biology, Medical Faculty, University Medical Center, Ljubljana, Slovenia.
J Endocrinol Invest. 1997 Apr;20(4):189-93. doi: 10.1007/BF03346901.
Nine patients with polycystic ovary syndrome (PCOS) and exaggerated serum level of 17-hydroxyprogesterone (17-OHP) response to gonadotropin (GnRH) agonist stimulation, and seven patients with PCOS, but normal 17-OHP response have been analysed for possible linkage of PCOS with genetic defects on the 17 alpha-hydroxylase/17,20-lyase gene (CYP17). A portion of the regulatory and the entire coding domain for this enzyme have been analysed by PCR-SSCP analysis. Samples have been also screened for the previously reported -34 bp polymorphism, which creates a new SP1-type promoter site, but was excluded as the primary genetic defect. We have varied gel concentrations, reduced running temperatures, added glycerol to polyacrylamide gels and performed electrophoresis on longer gels in order to improve the resolving power of SSCP. Screening of the CYP17 gene revealed no mutations associated with the disease in the examined group of patients. Also, the -34 bp polymorphism proved to be equally distributed among patient and control samples, which in our case were non-related. The results indicate that, when germline mutations in question, CYP17 may be excluded as a candidate gene for these subtypes of PCOS.
对9例多囊卵巢综合征（PCOS）患者和7例PCOS患者进行了分析，前者血清17-羟孕酮（17-OHP）水平对促性腺激素（GnRH）激动剂刺激反应过度，后者17-OHP反应正常，以研究PCOS与17α-羟化酶/17,20-裂解酶基因（CYP17）遗传缺陷之间的可能联系。通过PCR-SSCP分析对该酶的部分调控区域和整个编码区域进行了分析。还对样本进行了先前报道的-34 bp多态性筛查，该多态性产生了一个新的SP1型启动子位点，但被排除为主要遗传缺陷。我们改变了凝胶浓度，降低了运行温度，在聚丙烯酰胺凝胶中添加了甘油，并在更长的凝胶上进行电泳，以提高SSCP的分辨能力。对CYP17基因的筛查显示，在所检查的患者组中未发现与该疾病相关的突变。此外，-34 bp多态性在患者和对照样本中分布相同，在我们的案例中，这些样本无相关性。结果表明，就种系突变而言，CYP17可被排除为这些亚型PCOS的候选基因。
