title: Human chorionic gonadotrophin-beta gene sequences in women with disorders of HCG production.
abstract: Women with recurrent abortion, primary unexplained infertility, and gestational trophoblastic neoplasia (GTN) manifest disordered human chorionic gonadotrophin (HCG) secretion. Mutations in the HCG beta/luteinizing hormone (LH) beta gene complex could cause aberrant HCG production in these disorders. The purpose of this study was to determine whether HCG beta gene deletions occur in women with recurrent abortion or primary 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, and 30 controls. Southern blots were constructed and hybridized with DNA probes for HCG beta-5 and the LH beta gene. No gene deletions were identified in patients with recurrent abortion or primary unexplained infertility. Likewise, no gene duplications were identified in women with GTN. A previously described Mbol restriction fragment length polymorphism (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.
authors.affiliation: Department of Obstetrics and Gynecology, University of Chicago, IL 60637, USA.
authors.forename: L C
authors.initials: LC
authors.lastname: Layman
authors.forename: J L
authors.initials: JL
authors.lastname: Edwards
authors.forename: W E
authors.initials: WE
authors.lastname: Osborne
authors.forename: D B
authors.initials: DB
authors.lastname: Peak
authors.forename: D G
authors.initials: DG
authors.lastname: Gallup
authors.forename: S P
authors.initials: SP
authors.lastname: Tho
authors.forename: R H
authors.initials: RH
authors.lastname: Reindollar
authors.forename: D J
authors.initials: DJ
authors.lastname: Roach
authors.forename: P G
authors.initials: PG
authors.lastname: McDonough
authors.forename: K D
authors.initials: KD
authors.lastname: Lanclos
mesh_terms: D000026:Abortion, Habitual / Q000235:genetics / Q000503:physiopathology; D000328:Adult; D016022:Case-Control Studies; D006063:Chorionic Gonadotropin / Q000096:biosynthesis* / Q000378:metabolism; D018997:Chorionic Gonadotropin, beta Subunit, Human / Q000235:genetics*; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D004252:DNA Mutational Analysis; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007247:Infertility, Female / Q000235:genetics / Q000503:physiopathology; D007986:Luteinizing Hormone / Q000235:genetics; D008297:Male; D005810:Multigene Family; D009154:Mutation; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D014328:Trophoblastic Neoplasms / Q000235:genetics / Q000503:physiopathology; D014594:Uterine Neoplasms / Q000235:genetics / Q000503:physiopathology
chemical_list: D006063:Chorionic Gonadotropin; D018997:Chorionic Gonadotropin, beta Subunit, Human; D007986:Luteinizing Hormone; D004247:DNA