title: Leukaemia inhibitory factor (LIF) gene mutations in women with unexplained infertility and recurrent failure of implantation after IVF and embryo transfer.
abstract: OBJECTIVE
  Leukaemia inhibitory factor (LIF) plays a central role in the control of implantation. We undertook this study to investigate the prevalence of LIF gene alterations in women with unexplained infertility and with recurrent failure of implantation after in vitro fertilisation (IVF) and embryo transfer.
  
  
  METHODS
  Forty five women with recurrent failure of implantation after IVF (group A), 50 with unexplained infertility (group B) and 105 fertile women (controls) were screened for LIF gene mutations. Standard genomic DNA extraction, PCR amplification of the LIF gene and single-strand conformation polymorphism (SSCP) analysis were used to search for mutations which were subsequently confirmed by DNA sequencing.
  
  
  RESULTS
  In group A, one woman was identified as having a neutral LIF gene polymorphism in exon 3 without affecting protein conformation. In group B, one woman with a heterozygous mutation and one with a neutral polymorphism were detected. In controls, only one woman with a neutral polymorphism in the intron between exons 2 and 3 was found. The woman with a potentially functional LIF gene mutation in group B achieved an ongoing clinical pregnancy after ovarian superovulation.
  
  
  CONCLUSIONS
  Potentially functional mutations in the LIF gene do infrequently occur in women with unexplained infertility and may play a role in the etiology of infertility. However, routine screening for LIF mutations or polymorphisms in these women is not justified for the low prevalence of gene alterations.
authors.affiliation: Department of Obstetrics and Gynecology, University of Wuerzburg, Josef-Schneider-Strasse 4, D-97080 Wuerzburg, Germany. thomas.steck@mail.uni-wuerzburg.de
authors.forename: Thomas
authors.initials: T
authors.lastname: Steck
authors.forename: Ralf
authors.initials: R
authors.lastname: Giess
authors.forename: Marc W
authors.initials: MW
authors.lastname: Suetterlin
authors.forename: Monika
authors.initials: M
authors.lastname: Bolland
authors.forename: Stephanie
authors.initials: S
authors.lastname: Wiest
authors.forename: Uwe G
authors.initials: UG
authors.lastname: Poehls
authors.forename: Johannes
authors.initials: J
authors.lastname: Dietl
mesh_terms: D000026:Abortion, Habitual / Q000235:genetics; D000328:Adult; D015153:Blotting, Western; D016022:Case-Control Studies; D004624:Embryo Transfer; D005260:Female; D005307:Fertilization in Vitro / Q000009:adverse effects / Q000379:methods*; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D007247:Infertility, Female / Q000235:genetics*; D015850:Interleukin-6 / Q000235:genetics*; D053605:Leukemia Inhibitory Factor; D008183:Luteal Phase; D009154:Mutation; D011247:Pregnancy; D011336:Probability; D011863:Radioimmunoassay; D012016:Reference Values; D018570:Risk Assessment; D012494:Sampling Studies; D018709:Statistics, Nonparametric; D017211:Treatment Failure
chemical_list: D015850:Interleukin-6; C507837:LIF protein, human; D053605:Leukemia Inhibitory Factor