Human chorionic gonadotrophin-beta gene sequences in women with disorders of HCG production

Women with recurrent abortion, primary unexplained infertility, andgestational trophoblastic neoplasia (GTN) manifest disordered humanchorionic gonadotrophin (HCG) secretion. Mutations in the HCGbeta/luteinizing hormone (LH) beta gene complex could cause aberrant HCGproduction in these disorders. The purpose of this study was to determinewhether HCG beta gene deletions occur in women with recurrent abortion orprimary unexplained infertility, and whether HCG beta gene duplications arepresent in women with GTN. DNA was extracted from 10 patients withunexplained recurrent abortion, 10 patients with unexplained primaryinfertility, 12 patients with GTN, three partners of women with GTN, and 30controls. Southern blots were constructed and hybridized with DNA probesfor HCG beta-5 and the LH beta gene. No gene deletions were identified inpatients with recurrent abortion or primary unexplained infertility.Likewise, no gene duplications were identified in women with GTN. Apreviously described Mbol restriction fragment length polymorphism (RFLP)was identified in both patients and controls. A new Pstl RFLP was alsocharacterized, but was present in patients and controls.Deletion/duplication mutations in the HCG beta/LH beta gene complex do notappear to be common causes of aberrant HCG production in humans with thesedisorders.