CYP17 GENE ANALYSIS IN HYPERANDROGENISED WOMEN WITH AND WITHOUT EXAGGERATED 17-HYDROXYPROGESTERONE RESPONSE TO OVARIAN STIMULATION

Nine patients with polycystic ovary syndrome (PCOS) and exaggerated se rum level of 17-hydroxyprogesterone (17-OHP) response to gonadotropin (GnRH) agonist stimulation, and seven patients with PCOS, but normal 1 7-OHP response have been analysed for possible linkage of PCOS with ge netic 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 scree ned for the previously reported -34 bp polymorphism, which creates a n ew SP1-type promoter site, but was excluded as the primary genetic def ect. 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. Screenin g of the CYP17 gene revealed no mutations associated with the disease in the examined group of patients. Also, the -34 bp polymorphism prove d to be equally distributed among patient and control samples, which i n our case were non-related. The results indicate that, when germline mutations in question, CYP17 may be excluded as a candidate gene for t hese subtypes of PCOS. (C) 1997, Editrice Kurtis.