Factor V Leiden, Prothrombin 20210G>A, MTHFR 677C>T and 1298A>C, and Homocysteinemia in Tunisian Blood Donors
Identifieur interne : 000160 ( Main/Exploration ); précédent : 000159; suivant : 000161Factor V Leiden, Prothrombin 20210G>A, MTHFR 677C>T and 1298A>C, and Homocysteinemia in Tunisian Blood Donors
Auteurs : Samira Hadhri ; Mohamed Ben Rejab ; Hajer Guedria ; Lamia Ifa ; Noureddine Chatti ; Hadef SkouriSource :
- Journal of Clinical Laboratory Analysis [ 0887-8013 ] ; 2012.
Descripteurs français
- KwdFr :
- Adulte (MeSH), Adulte d'âge moyen (MeSH), Analyse en composantes principales (MeSH), Donneurs de sang (statistiques et données numériques), Femelle (MeSH), Fréquence d'allèle (MeSH), Humains (MeSH), Hyperhomocystéinémie (enzymologie), Hyperhomocystéinémie (génétique), Hyperhomocystéinémie (épidémiologie), Methylenetetrahydrofolate reductase (NADPH2) (génétique), Mâle (MeSH), Polymorphisme de nucléotide simple (MeSH), Polymorphisme de restriction (MeSH), Proaccélérine (génétique), Prothrombine (génétique), Réaction de polymérisation en chaîne (MeSH), Statistique non paramétrique (MeSH), Tunisie (épidémiologie).
- MESH :
- enzymologie : Hyperhomocystéinémie.
- génétique : Hyperhomocystéinémie, Methylenetetrahydrofolate reductase (NADPH2), Proaccélérine, Prothrombine.
- statistiques et données numériques : Donneurs de sang.
- épidémiologie : Hyperhomocystéinémie, Tunisie.
- Adulte, Adulte d'âge moyen, Analyse en composantes principales, Femelle, Fréquence d'allèle, Humains, Mâle, Polymorphisme de nucléotide simple, Polymorphisme de restriction, Réaction de polymérisation en chaîne, Statistique non paramétrique.
- Wicri :
- geographic : Tunisie.
English descriptors
- KwdEn :
- Adult (MeSH), Blood Donors (statistics & numerical data), Factor V (genetics), Female (MeSH), Gene Frequency (MeSH), Humans (MeSH), Hyperhomocysteinemia (enzymology), Hyperhomocysteinemia (epidemiology), Hyperhomocysteinemia (genetics), Male (MeSH), Methylenetetrahydrofolate Reductase (NADPH2) (genetics), Middle Aged (MeSH), Polymerase Chain Reaction (MeSH), Polymorphism, Restriction Fragment Length (MeSH), Polymorphism, Single Nucleotide (MeSH), Principal Component Analysis (MeSH), Prothrombin (genetics), Statistics, Nonparametric (MeSH), Tunisia (epidemiology).
- MESH :
- chemical , genetics : Factor V, Methylenetetrahydrofolate Reductase (NADPH2), Prothrombin.
- geographic , epidemiology : Tunisia.
- enzymology : Hyperhomocysteinemia.
- epidemiology : Hyperhomocysteinemia.
- genetics : Hyperhomocysteinemia.
- statistics & numerical data : Blood Donors.
- Adult, Female, Gene Frequency, Humans, Male, Middle Aged, Polymerase Chain Reaction, Polymorphism, Restriction Fragment Length, Polymorphism, Single Nucleotide, Principal Component Analysis, Statistics, Nonparametric.
Abstract
Specific genetic conditions are known to be associated with high risk of venous thromboembolism. This genetic basis varies widely between ethnic groups. We investigated the distribution of four inherited polymorphisms in 113 unselected
Url:
DOI: 10.1002/jcla.21506
PubMed: 22628232
PubMed Central: 6807485
Affiliations:
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Le document en format XML
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult (MeSH)</term>
<term>Blood Donors (statistics & numerical data)</term>
<term>Factor V (genetics)</term>
<term>Female (MeSH)</term>
<term>Gene Frequency (MeSH)</term>
<term>Humans (MeSH)</term>
<term>Hyperhomocysteinemia (enzymology)</term>
<term>Hyperhomocysteinemia (epidemiology)</term>
<term>Hyperhomocysteinemia (genetics)</term>
<term>Male (MeSH)</term>
<term>Methylenetetrahydrofolate Reductase (NADPH2) (genetics)</term>
<term>Middle Aged (MeSH)</term>
<term>Polymerase Chain Reaction (MeSH)</term>
<term>Polymorphism, Restriction Fragment Length (MeSH)</term>
<term>Polymorphism, Single Nucleotide (MeSH)</term>
<term>Principal Component Analysis (MeSH)</term>
<term>Prothrombin (genetics)</term>
<term>Statistics, Nonparametric (MeSH)</term>
<term>Tunisia (epidemiology)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Adulte (MeSH)</term>
<term>Adulte d'âge moyen (MeSH)</term>
<term>Analyse en composantes principales (MeSH)</term>
<term>Donneurs de sang (statistiques et données numériques)</term>
<term>Femelle (MeSH)</term>
<term>Fréquence d'allèle (MeSH)</term>
<term>Humains (MeSH)</term>
<term>Hyperhomocystéinémie (enzymologie)</term>
<term>Hyperhomocystéinémie (génétique)</term>
<term>Hyperhomocystéinémie (épidémiologie)</term>
<term>Methylenetetrahydrofolate reductase (NADPH2) (génétique)</term>
<term>Mâle (MeSH)</term>
<term>Polymorphisme de nucléotide simple (MeSH)</term>
<term>Polymorphisme de restriction (MeSH)</term>
<term>Proaccélérine (génétique)</term>
<term>Prothrombine (génétique)</term>
<term>Réaction de polymérisation en chaîne (MeSH)</term>
<term>Statistique non paramétrique (MeSH)</term>
<term>Tunisie (épidémiologie)</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Factor V</term>
<term>Methylenetetrahydrofolate Reductase (NADPH2)</term>
<term>Prothrombin</term>
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<keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Tunisia</term>
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<keywords scheme="MESH" qualifier="enzymologie" xml:lang="fr"><term>Hyperhomocystéinémie</term>
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<keywords scheme="MESH" qualifier="enzymology" xml:lang="en"><term>Hyperhomocysteinemia</term>
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<keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Hyperhomocysteinemia</term>
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<term>Methylenetetrahydrofolate reductase (NADPH2)</term>
<term>Proaccélérine</term>
<term>Prothrombine</term>
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<term>Middle Aged</term>
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<term>Polymorphism, Single Nucleotide</term>
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<front><div type="abstract" xml:lang="en"><p>Specific genetic conditions are known to be associated with high risk of venous thromboembolism. This genetic basis varies widely between ethnic groups. We investigated the distribution of four inherited polymorphisms in 113 unselected <styled-content style="fixed-case">T</styled-content>
unisian blood donors by using polymerase chain reaction‐restriction fragment length polymorphism (<styled-content style="fixed-case">PCR</styled-content>
‐<styled-content style="fixed-case">RFLP</styled-content>
) method. The allele frequencies of Factor V <styled-content style="fixed-case">L</styled-content>
eiden (<styled-content style="fixed-case">FVL</styled-content>
), prothrombin 20210G><styled-content style="fixed-case">A</styled-content>
, methylenetetrahydrofolate reductase (<styled-content style="fixed-case">MTHFR</styled-content>
) 677<styled-content style="fixed-case">C</styled-content>
><styled-content style="fixed-case">T</styled-content>
, and <styled-content style="fixed-case">MTHFR</styled-content>
1298<styled-content style="fixed-case">A</styled-content>
><styled-content style="fixed-case">C</styled-content>
mutations were 3, 0.9, 30, and 31%, respectively. The <styled-content style="fixed-case">MTHFR</styled-content>
677<styled-content style="fixed-case">C</styled-content>
><styled-content style="fixed-case">T</styled-content>
polymorphism was influenced by age. Twenty‐nine of the 113 blood donors demonstrated more than one genetic markers. Hyperhomocysteinemia was found in 12 subjects, and it was statistically associated to the <styled-content style="fixed-case">MTHFR</styled-content>
677<styled-content style="fixed-case">TT</styled-content>
genotype. Principal component analysis allowed disclosing the resemblance between <styled-content style="fixed-case">M</styled-content>
editerranean populations. Our findings may be helpful for population genetics study, and provide epidemiologic database for further studies in thrombosis field among <styled-content style="fixed-case">T</styled-content>
unisians. J. Clin. Lab. Anal. 26:167‐173, 2012. © 2012 Wiley Periodicals, Inc.</p>
</div>
</front>
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<affiliations><list></list>
<tree><noCountry><name sortKey="Chatti, Noureddine" sort="Chatti, Noureddine" uniqKey="Chatti N" first="Noureddine" last="Chatti">Noureddine Chatti</name>
<name sortKey="Guedria, Hajer" sort="Guedria, Hajer" uniqKey="Guedria H" first="Hajer" last="Guedria">Hajer Guedria</name>
<name sortKey="Hadhri, Samira" sort="Hadhri, Samira" uniqKey="Hadhri S" first="Samira" last="Hadhri">Samira Hadhri</name>
<name sortKey="Ifa, Lamia" sort="Ifa, Lamia" uniqKey="Ifa L" first="Lamia" last="Ifa">Lamia Ifa</name>
<name sortKey="Rejab, Mohamed Ben" sort="Rejab, Mohamed Ben" uniqKey="Rejab M" first="Mohamed Ben" last="Rejab">Mohamed Ben Rejab</name>
<name sortKey="Skouri, Hadef" sort="Skouri, Hadef" uniqKey="Skouri H" first="Hadef" last="Skouri">Hadef Skouri</name>
</noCountry>
</tree>
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</record>
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