Serveur sur les données et bibliothèques médicales au Maghreb (version finale)

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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 : 000161

Factor 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 Skouri

Source :

RBID : PMC:6807485

Descripteurs français

English descriptors

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 Tunisian blood donors by using polymerase chain reaction‐restriction fragment length polymorphism (PCRRFLP) method. The allele frequencies of Factor V Leiden (FVL), prothrombin 20210G>A, methylenetetrahydrofolate reductase (MTHFR) 677C>T, and MTHFR 1298A>C mutations were 3, 0.9, 30, and 31%, respectively. The MTHFR 677C>T 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 MTHFR 677TT genotype. Principal component analysis allowed disclosing the resemblance between Mediterranean populations. Our findings may be helpful for population genetics study, and provide epidemiologic database for further studies in thrombosis field among Tunisians. J. Clin. Lab. Anal. 26:167‐173, 2012. © 2012 Wiley Periodicals, Inc.


Url:
DOI: 10.1002/jcla.21506
PubMed: 22628232
PubMed Central: 6807485


Affiliations:


Links toward previous steps (curation, corpus...)


Le document en format XML

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eiden, Prothrombin 20210
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, MTHFR 677
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and 1298
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, and Homocysteinemia in
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<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>
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<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>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en">
<term>Factor V</term>
<term>Methylenetetrahydrofolate Reductase (NADPH2)</term>
<term>Prothrombin</term>
</keywords>
<keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en">
<term>Tunisia</term>
</keywords>
<keywords scheme="MESH" qualifier="enzymologie" xml:lang="fr">
<term>Hyperhomocystéinémie</term>
</keywords>
<keywords scheme="MESH" qualifier="enzymology" xml:lang="en">
<term>Hyperhomocysteinemia</term>
</keywords>
<keywords scheme="MESH" qualifier="epidemiology" xml:lang="en">
<term>Hyperhomocysteinemia</term>
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<term>Hyperhomocysteinemia</term>
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<term>Hyperhomocystéinémie</term>
<term>Methylenetetrahydrofolate reductase (NADPH2)</term>
<term>Proaccélérine</term>
<term>Prothrombine</term>
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<term>Blood Donors</term>
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<term>Donneurs de sang</term>
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<term>Female</term>
<term>Gene Frequency</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Polymerase Chain Reaction</term>
<term>Polymorphism, Restriction Fragment Length</term>
<term>Polymorphism, Single Nucleotide</term>
<term>Principal Component Analysis</term>
<term>Statistics, Nonparametric</term>
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<term>Adulte</term>
<term>Adulte d'âge moyen</term>
<term>Analyse en composantes principales</term>
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<term>Fréquence d'allèle</term>
<term>Humains</term>
<term>Mâle</term>
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<term>Polymorphisme de restriction</term>
<term>Réaction de polymérisation en chaîne</term>
<term>Statistique non paramétrique</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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<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>
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