MaghrebDataLibMedV2, Main, Exploration, bibRecord, 000200

First study of the C2491t nonsense mutation frequency in moroccan healthy population.

Identifieur interne : 000200 ( Main/Exploration ); précédent : 000199; suivant : 000201

First study of the C2491t nonsense mutation frequency in moroccan healthy population.

Auteurs : K. Hamzi [Oman] ; B. Diakité ; W. Hmimech ; S. Nadifi

Source :

Journal of molecular neuroscience : MN [ 1559-1166 ] ; 2013.

RBID : pubmed:23765175

Descripteurs français

KwdFr :
- Adulte (MeSH), Adulte d'âge moyen (MeSH), Arabes (génétique), Codon non-sens (MeSH), Femelle (MeSH), Fréquence d'allèle (MeSH), Humains (MeSH), Maroc (MeSH), Mâle (MeSH), Population (génétique), Proaccélérine (génétique).
MESH :
- génétique : Arabes, Population, Proaccélérine.
- Adulte, Adulte d'âge moyen, Codon non-sens, Femelle, Fréquence d'allèle, Humains, Maroc, Mâle.
Wicri :
- geographic : Maroc.

English descriptors

KwdEn :
- Adult (MeSH), Arabs (genetics), Codon, Nonsense (MeSH), Factor V (genetics), Female (MeSH), Gene Frequency (MeSH), Humans (MeSH), Male (MeSH), Middle Aged (MeSH), Morocco (MeSH), Population (genetics).
MESH :
- chemical , genetics : Factor V.
- chemical : Codon, Nonsense.
- geographic : Morocco.
- genetics : Arabs, Population.
- Adult, Female, Gene Frequency, Humans, Male, Middle Aged.

Abstract

The mutation FV Leiden (G1691A) is the most common mutation worldwide with a variable allelic frequency between countries. More frequent in the European and Caucasian populations and rare or absent in African native population, the FVL was studied in the Moroccan population (They-They et al. Ann Hum Biol 37(6):767-777, 2010) and is totally absent as reported previously by (Mathonnet et al. Thromb Haemost 88(6):1073-1074, 2002). Here, another mutation in FV (Q773Term) was detected in a Moroccan patient, which took our interest for this study and establishes the first epidemiological database for future associated studies concerning neurovascular diseases.

DOI: 10.1007/s12031-013-0045-1
PubMed: 23765175

Affiliations:

Oman

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Le document en format XML

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<affiliation wicri:level="1"><nlm:affiliation>Laboratory of Human Genetics and Molecular Pathology, Medical School, University Hassan II Casablanca, Casablanca, Morocco, khalil.hamzi@gmail.com.</nlm:affiliation>
<country wicri:rule="url">Oman</country>
<wicri:regionArea>Laboratory of Human Genetics and Molecular Pathology, Medical School, University Hassan II Casablanca, Casablanca, Morocco</wicri:regionArea>
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<author><name sortKey="Diakite, B" sort="Diakite, B" uniqKey="Diakite B" first="B" last="Diakité">B. Diakité</name>
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<series><title level="j">Journal of molecular neuroscience : MN</title>
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<term>Arabs (genetics)</term>
<term>Codon, Nonsense (MeSH)</term>
<term>Factor V (genetics)</term>
<term>Female (MeSH)</term>
<term>Gene Frequency (MeSH)</term>
<term>Humans (MeSH)</term>
<term>Male (MeSH)</term>
<term>Middle Aged (MeSH)</term>
<term>Morocco (MeSH)</term>
<term>Population (genetics)</term>
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<keywords scheme="KwdFr" xml:lang="fr"><term>Adulte (MeSH)</term>
<term>Adulte d'âge moyen (MeSH)</term>
<term>Arabes (génétique)</term>
<term>Codon non-sens (MeSH)</term>
<term>Femelle (MeSH)</term>
<term>Fréquence d'allèle (MeSH)</term>
<term>Humains (MeSH)</term>
<term>Maroc (MeSH)</term>
<term>Mâle (MeSH)</term>
<term>Population (génétique)</term>
<term>Proaccélérine (génétique)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Factor V</term>
</keywords>
<keywords scheme="MESH" type="chemical" xml:lang="en"><term>Codon, Nonsense</term>
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<keywords scheme="MESH" type="geographic" xml:lang="en"><term>Morocco</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Arabs</term>
<term>Population</term>
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<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Arabes</term>
<term>Population</term>
<term>Proaccélérine</term>
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<term>Female</term>
<term>Gene Frequency</term>
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<term>Middle Aged</term>
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<term>Adulte d'âge moyen</term>
<term>Codon non-sens</term>
<term>Femelle</term>
<term>Fréquence d'allèle</term>
<term>Humains</term>
<term>Maroc</term>
<term>Mâle</term>
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<front><div type="abstract" xml:lang="en">The mutation FV Leiden (G1691A) is the most common mutation worldwide with a variable allelic frequency between countries. More frequent in the European and Caucasian populations and rare or absent in African native population, the FVL was studied in the Moroccan population (They-They et al. Ann Hum Biol 37(6):767-777, 2010) and is totally absent as reported previously by (Mathonnet et al. Thromb Haemost 88(6):1073-1074, 2002). Here, another mutation in FV (Q773Term) was detected in a Moroccan patient, which took our interest for this study and establishes the first epidemiological database for future associated studies concerning neurovascular diseases. </div>
</front>
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<affiliations><list><country><li>Oman</li>
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<tree><noCountry><name sortKey="Diakite, B" sort="Diakite, B" uniqKey="Diakite B" first="B" last="Diakité">B. Diakité</name>
<name sortKey="Hmimech, W" sort="Hmimech, W" uniqKey="Hmimech W" first="W" last="Hmimech">W. Hmimech</name>
<name sortKey="Nadifi, S" sort="Nadifi, S" uniqKey="Nadifi S" first="S" last="Nadifi">S. Nadifi</name>
</noCountry>
<country name="Oman"><noRegion><name sortKey="Hamzi, K" sort="Hamzi, K" uniqKey="Hamzi K" first="K" last="Hamzi">K. Hamzi</name>
</noRegion>
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First study of the C2491t nonsense mutation frequency in moroccan healthy population.

First study of the C2491t nonsense mutation frequency in moroccan healthy population.

Source :

Descripteurs français

English descriptors

Abstract

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

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki