title: Combined heterozygosity for methylenetetrahydrofolate reductase (MTHFR) mutations C677T and A1298C is associated with abruptio placentae but not with intrauterine growth restriction.
abstract: OBJECTIVE
  This study was undertaken to investigate the involvement of MTHFR gene mutations C677T and A1298C implicated in vascular disease, in patients with abruptio placentae and intrauterine growth restriction (IUGR).
  
  
  METHODS
  DNA was extracted from blood samples of 54 patients with placental vasculopathy (18 patients with abruptio placentae and 36 with IUGR) and 114 control patients and amplified by the polymerase chain reaction (PCR). The resulting fragments were subjected to restriction enzyme analysis and resolved by gel electrophoresis.
  
  
  RESULTS
  A significant association could be demonstrated between mutation A1298C and both abruptio placentae and IUGR. Combined heterozygosity for mutations C677T and A1298C was detected in 22.2% of abruptio placentae cases.
  
  
  CONCLUSIONS
  Combined heterozygosity for MTHFR mutations C677T and A1298C may represent a genetic marker for abruptio placentae.
authors.affiliation: Department of Obstetrics and Gynaecology, Faculty of Medicine, PO Box 19125, 7505, Tygerberg, South Africa. gsg@mweb.co.za
authors.forename: G S
authors.initials: GS
authors.lastname: Gebhardt
authors.forename: C L
authors.initials: CL
authors.lastname: Scholtz
authors.forename: R
authors.initials: R
authors.lastname: Hillermann
authors.forename: H J
authors.initials: HJ
authors.lastname: Odendaal
mesh_terms: D000037:Abruptio Placentae / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics*; D005787:Gene Frequency; D006579:Heterozygote; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D009154:Mutation; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*; D010920:Placenta / Q000098:blood supply; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D014652:Vascular Diseases / Q000235:genetics
chemical_list: D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)