HUMAN CHORIONIC GONADOTROPIN-BETA GENE-SEQUENCES IN WOMEN WITH DISORDERS OF HCG PRODUCTION

Women with recurrent abortion, primary unexplained infertility, and ge stational trophoblastic neoplasia (GTN) manifest disordered human chor ionic gonadotrophin (HCG) secretion. Mutations in the HCG beta/luteini zing hormone (LH)beta gene complex could cause aberrant HCG production in these disorders. The purpose of this study was to determine whethe r HCG beta gene deletions occur in women with recurrent abortion or pr imary unexplained infertility, and whether HCG beta gene duplications are present in women with GTN. DNA was extracted from 10 patients with unexplained recurrent abortion, 10 patients with unexplained primary infertility, 12 patients with GTN, three partners of women with GTN, a nd 30 controls. Southern blots were constructed and hybridized with DN A probes for HCG beta-5 and the LH beta gene. No gene deletions were i dentified in patients with recurrent abortion or primary unexplained i nfertility. Likewise, no gene duplications were identified in women wi th GTN. A previously described Mbol restriction fragment length polymo rphism (RFLP) was identified in both patients and controls. A new Pstl RFLP was also characterized, but was present in patients and controls . Deletion/duplication mutations in the HCG beta/LH beta gene complex do not appear to be common causes of aberrant HCG production in humans with these disorders.