A GERMLINE TAQI RESTRICTION-FRAGMENT-LENGTH-POLYMORPHISM IN THE PROGESTERONE-RECEPTOR GENE IN OVARIAN-CARCINOMA

Clinical outcome in ovarian carcinoma is predicted by progesterone rec eptor status, indicating an endocrine aspect to this disease. Peripher al leucocyte genomic DNAs were obtained from 41 patients with primary ovarian carcinoma and 83 controls from Ireland, as well as from 26 pri mary ovarian carcinoma patients and 101 controls in Germany. Southern analysis using a human progesterone receptor (hPR) cDNA probe identifi ed a germline TaqI restriction fragment length polymorphism (RFLP) def ined by two alleles: T1, represented by a 2.7 kb fragment; and T2, rep resented by a 1.9 kb fragment and characterised by an additional TaqI restriction site with respect to T1. An over-representation of T2 in o varian cancer patients compared with controls in the pooled Irish/Germ an population (P<0.025) was observed. A difference (P<0.02) in the dis tribution of the RFLP genotypes between Irish and German control popul ations was also observed. The allele distributions could not be shown to differ significantly from Hardy-Weinberg distribution in any subgro up. Using hPR cDNA region-specific probes, the extra TaqI restriction site was mapped to intron G of the hPR gene.