Multiple molecular-genetic defects in a female with mixed hyperlipoproteinemia and earlyischemic heart disease
Aim. 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). Material and methods. A patient with a mixed form of HLP and 5 her relatives were examined...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
"Consilium Medicum" Publishing house
2003-10-01
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| Series: | Терапевтический архив |
| Subjects: | |
| Online Access: | https://ter-arkhiv.ru/0040-3660/article/view/29674 |
| _version_ | 1828170507182145536 |
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| author | P P Malyshev D V Stambolsky A N Meshkov Yu V Davydova V V Kukharchuk |
| author_facet | P P Malyshev D V Stambolsky A N Meshkov Yu V Davydova V V Kukharchuk |
| author_sort | P P Malyshev |
| collection | DOAJ |
| description | Aim. 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).
Material and 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 e2/z2-genotype ofapoE. None of
the relatives carried more than one polymorphism by the studied genes.
Conclusion. Early IHD in females can be caused by combination of polymorphisms of genes associated with development of atherosclerosis. |
| first_indexed | 2024-04-12T03:11:28Z |
| format | Article |
| id | doaj.art-dd638322eb414226a2716c3c85505246 |
| institution | Directory Open Access Journal |
| issn | 0040-3660 2309-5342 |
| language | Russian |
| last_indexed | 2024-04-12T03:11:28Z |
| publishDate | 2003-10-01 |
| publisher | "Consilium Medicum" Publishing house |
| record_format | Article |
| series | Терапевтический архив |
| spelling | doaj.art-dd638322eb414226a2716c3c855052462022-12-22T03:50:20Zrus"Consilium Medicum" Publishing houseТерапевтический архив0040-36602309-53422003-10-017810617426702Multiple molecular-genetic defects in a female with mixed hyperlipoproteinemia and earlyischemic heart diseaseP P MalyshevD V StambolskyA N MeshkovYu V DavydovaV V KukharchukAim. 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). Material and 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 e2/z2-genotype ofapoE. None of the relatives carried more than one polymorphism by the studied genes. Conclusion. Early IHD in females can be caused by combination of polymorphisms of genes associated with development of atherosclerosis.https://ter-arkhiv.ru/0040-3660/article/view/29674mixed hyperlipoproteinemiaischemic heart diseasegenetic defects |
| spellingShingle | P P Malyshev D V Stambolsky A N Meshkov Yu V Davydova V V Kukharchuk Multiple molecular-genetic defects in a female with mixed hyperlipoproteinemia and earlyischemic heart disease Терапевтический архив mixed hyperlipoproteinemia ischemic heart disease genetic defects |
| title | Multiple molecular-genetic defects in a female with mixed hyperlipoproteinemia and earlyischemic heart disease |
| title_full | Multiple molecular-genetic defects in a female with mixed hyperlipoproteinemia and earlyischemic heart disease |
| title_fullStr | Multiple molecular-genetic defects in a female with mixed hyperlipoproteinemia and earlyischemic heart disease |
| title_full_unstemmed | Multiple molecular-genetic defects in a female with mixed hyperlipoproteinemia and earlyischemic heart disease |
| title_short | Multiple molecular-genetic defects in a female with mixed hyperlipoproteinemia and earlyischemic heart disease |
| title_sort | multiple molecular genetic defects in a female with mixed hyperlipoproteinemia and earlyischemic heart disease |
| topic | mixed hyperlipoproteinemia ischemic heart disease genetic defects |
| url | https://ter-arkhiv.ru/0040-3660/article/view/29674 |
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