Multiple molecular-genetic defects in a woman with mixed hyperlipoproteinemia and early ischemic heart disease

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). A patient with a mixed form of HLP and 5 her relatives were examined genetically. The genotype...

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Published inTerapevtic̆eskii arhiv Vol. 75; no. 10; p. 71
Main Authors Malyshev, P P, Stambol'skiĭ, D V, Meshkov, A N, Davydova, Iu V, Kukharchuk, V V
Format Journal Article
LanguageRussian
Published Russia (Federation) 2003
Subjects
Amino Acid Substitution - genetics
Apolipoproteins E - genetics
DNA - analysis
Female
Genetic Predisposition to Disease
Genetic Testing
Genotype
Humans
Hyperlipoproteinemia Type III - genetics
Methylenetetrahydrofolate Reductase (NADPH2) - genetics
Middle Aged
Myocardial Ischemia - genetics
Polymorphism, Restriction Fragment Length
Receptors, LDL - genetics
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Summary: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). 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. 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. Early IHD in females can be caused by combination of polymorphisms of genes associated with development of atherosclerosis.
ISSN:0040-3660