title: [Multiple molecular-genetic defects in a woman with mixed hyperlipoproteinemia and early ischemic heart disease].
abstract: OBJECTIVE
  Analysis of genes of apolipoprotein E (apoE), LDLP receptor and methylentetrahydrofolate reductase (MTHFR) in a female patient with mixed hyperlipoproteinemia (HLP) and early ischemic heart disease (IHD).
  
  
  METHODS
  A patient with a mixed form of HLP and 5 her relatives were examined genetically. The genotype of apoE and MTHFR was determined using a restrictive analysis of PCR fragments. Conformation of one chain DNA was used to analyse gene of LDLP-receptor with following sequencing of anomalous DNA.
  
  
  RESULTS
  The proband had changes in all examined genes: nucleotide replacement of A370T gene of LDLP receptor, nucleotide replacement of MTHFR gene C677T and epsilon 2/epsilon 2-genotype of apoE. None of the relatives carried more than one polymorphism by the studied genes.
  
  
  CONCLUSIONS
  Early IHD in females can be caused by combination of polymorphisms of genes associated with development of atherosclerosis.
authors.forename: P P
authors.initials: PP
authors.lastname: Malyshev
authors.forename: D V
authors.initials: DV
authors.lastname: Stambol'skiĭ
authors.forename: A N
authors.initials: AN
authors.lastname: Meshkov
authors.forename: Iu V
authors.initials: IuV
authors.lastname: Davydova
authors.forename: V V
authors.initials: VV
authors.lastname: Kukharchuk
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics; D001057:Apolipoproteins E / Q000235:genetics; D004247:DNA / Q000032:analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D006952:Hyperlipoproteinemia Type III / Q000235:genetics*; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D008875:Middle Aged; D017202:Myocardial Ischemia / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D011973:Receptors, LDL / Q000235:genetics
chemical_list: D001057:Apolipoproteins E; D011973:Receptors, LDL; D004247:DNA; D042965:Methylenetetrahydrofolate Reductase (NADPH2)