DNA repair gene polymorphisms at XRCC1 (Arg194Trp, Arg280His, and Arg399Gln) in a healthy Tunisian population: interethnic variation and functional prediction.
Identifieur interne : 000173 ( Main/Exploration ); précédent : 000172; suivant : 000174DNA repair gene polymorphisms at XRCC1 (Arg194Trp, Arg280His, and Arg399Gln) in a healthy Tunisian population: interethnic variation and functional prediction.
Auteurs : Ghada Ben Salah [Tunisie] ; Imen Ayadi ; Nourhene Fendri-Kriaa ; Fakhri Kallabi ; Emna Mkaouar-Rebai ; Amine Fourati ; Faiza Fakhfakh ; Hammadi Ayadi ; Hassen KamounSource :
- Genetic testing and molecular biomarkers [ 1945-0257 ] ; 2012.
Descripteurs français
- KwdFr :
- Adulte (MeSH), Adulte d'âge moyen (MeSH), Facteurs de risque (MeSH), Femelle (MeSH), Fréquence d'allèle (MeSH), Génotype (MeSH), Humains (MeSH), Jeune adulte (MeSH), Mâle (MeSH), Polymorphisme de nucléotide simple (MeSH), Polymorphisme de restriction (MeSH), Population d'origine africaine (génétique), Protéine-1 de complémentation croisée de la réparation des lésions induites par les rayons X (MeSH), Protéines de liaison à l'ADN (génétique), Protéines de liaison à l'ADN (métabolisme), Réaction de polymérisation en chaîne (MeSH), Réparation de l'ADN (génétique), Tunisie (MeSH).
- MESH :
- génétique : Population d'origine africaine, Protéines de liaison à l'ADN, Réparation de l'ADN.
- métabolisme : Protéines de liaison à l'ADN.
- Adulte, Adulte d'âge moyen, Facteurs de risque, Femelle, Fréquence d'allèle, Génotype, Humains, Jeune adulte, Mâle, Polymorphisme de nucléotide simple, Polymorphisme de restriction, Protéine-1 de complémentation croisée de la réparation des lésions induites par les rayons X, Réaction de polymérisation en chaîne, Tunisie.
English descriptors
- KwdEn :
- Adult (MeSH), African Continental Ancestry Group (genetics), DNA Repair (genetics), DNA-Binding Proteins (genetics), DNA-Binding Proteins (metabolism), Female (MeSH), Gene Frequency (MeSH), Genotype (MeSH), Humans (MeSH), Male (MeSH), Middle Aged (MeSH), Polymerase Chain Reaction (MeSH), Polymorphism, Restriction Fragment Length (MeSH), Polymorphism, Single Nucleotide (MeSH), Risk Factors (MeSH), Tunisia (MeSH), X-ray Repair Cross Complementing Protein 1 (MeSH), Young Adult (MeSH).
- MESH :
- chemical , genetics : DNA-Binding Proteins.
- genetics : African Continental Ancestry Group, DNA Repair.
- chemical , metabolism : DNA-Binding Proteins.
- Adult, Female, Gene Frequency, Genotype, Humans, Male, Middle Aged, Polymerase Chain Reaction, Polymorphism, Restriction Fragment Length, Polymorphism, Single Nucleotide, Risk Factors, Tunisia, X-ray Repair Cross Complementing Protein 1, Young Adult.
Abstract
The genetic polymorphisms in DNA repair genes might affect the repair activities of the enzymes, predisposing individuals to cancer risk. Due to these genetic variants, interethnic differences in DNA repair capacity were observed in various populations. Hence, our study aimed to determine the prevalence of three nonsynonymous single-nucleotide polymorphisms (SNPs) in an X-ray repair cross-complementation group 1 gene (XRCC1) (Arg194Trp, Arg280His, and Arg399Gln) in a healthy Tunisian population (TUN) and to compare that with HapMap ( www.hapmap.org ) populations. Also, we predicted their eventual functional effect based on the protein conservation analysis by Sorting Intolerant From Tolerant (SIFT; http://sift.jcvi.org/www/SIFT_dbSNP.html ) software. The genotypes of 154 healthy individuals were determined by the polymerase chain reaction-restriction fragment length polymorphism. Tunisians showed a relative relatedness with Caucasians (European ancestry) for Arg194Trp and Arg399Gln that may be explained by the strategic geographic location of Tunisia in the Mediterranean, allowing exchanges with European countries. However, a characteristic pattern was observed in Arg280His polymorphism, which could be explained by the high inbreeding rate in TUN. The analysis of protein conservation showed that the three amino acid substitutions were predicted as damaged. The results presented here provide the first report on XRCC1 polymorphisms about Tunisians and may establish baseline database for our future clinical and genetic studies.
DOI: 10.1089/gtmb.2012.0035
PubMed: 23057594
Affiliations:
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last="Fendri-Kriaa">Nourhene Fendri-Kriaa</name></author><author><name sortKey="Kallabi, Fakhri" sort="Kallabi, Fakhri" uniqKey="Kallabi F" first="Fakhri" last="Kallabi">Fakhri Kallabi</name></author><author><name sortKey="Mkaouar Rebai, Emna" sort="Mkaouar Rebai, Emna" uniqKey="Mkaouar Rebai E" first="Emna" last="Mkaouar-Rebai">Emna Mkaouar-Rebai</name></author><author><name sortKey="Fourati, Amine" sort="Fourati, Amine" uniqKey="Fourati A" first="Amine" last="Fourati">Amine Fourati</name></author><author><name sortKey="Fakhfakh, Faiza" sort="Fakhfakh, Faiza" uniqKey="Fakhfakh F" first="Faiza" last="Fakhfakh">Faiza Fakhfakh</name></author><author><name sortKey="Ayadi, Hammadi" sort="Ayadi, Hammadi" uniqKey="Ayadi H" first="Hammadi" last="Ayadi">Hammadi Ayadi</name></author><author><name sortKey="Kamoun, Hassen" sort="Kamoun, Hassen" uniqKey="Kamoun H" first="Hassen" last="Kamoun">Hassen Kamoun</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date 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sortKey="Salah, Ghada Ben" sort="Salah, Ghada Ben" uniqKey="Salah G" first="Ghada Ben" last="Salah">Ghada Ben Salah</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Human Molecular Genetics, University of Sfax, Sfax, Tunisia. ghada.bsalah@gmail.com</nlm:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Laboratory of Human Molecular Genetics, University of Sfax, Sfax</wicri:regionArea><wicri:noRegion>Sfax</wicri:noRegion></affiliation></author><author><name sortKey="Ayadi, Imen" sort="Ayadi, Imen" uniqKey="Ayadi I" first="Imen" last="Ayadi">Imen Ayadi</name></author><author><name sortKey="Fendri Kriaa, Nourhene" sort="Fendri Kriaa, Nourhene" uniqKey="Fendri Kriaa N" first="Nourhene" last="Fendri-Kriaa">Nourhene Fendri-Kriaa</name></author><author><name sortKey="Kallabi, Fakhri" sort="Kallabi, Fakhri" uniqKey="Kallabi F" first="Fakhri" last="Kallabi">Fakhri Kallabi</name></author><author><name sortKey="Mkaouar Rebai, Emna" sort="Mkaouar Rebai, Emna" uniqKey="Mkaouar Rebai E" first="Emna" last="Mkaouar-Rebai">Emna Mkaouar-Rebai</name></author><author><name sortKey="Fourati, Amine" sort="Fourati, Amine" uniqKey="Fourati A" first="Amine" last="Fourati">Amine Fourati</name></author><author><name sortKey="Fakhfakh, Faiza" sort="Fakhfakh, Faiza" uniqKey="Fakhfakh F" first="Faiza" last="Fakhfakh">Faiza Fakhfakh</name></author><author><name sortKey="Ayadi, Hammadi" sort="Ayadi, Hammadi" uniqKey="Ayadi H" first="Hammadi" last="Ayadi">Hammadi Ayadi</name></author><author><name sortKey="Kamoun, Hassen" sort="Kamoun, Hassen" uniqKey="Kamoun H" first="Hassen" last="Kamoun">Hassen Kamoun</name></author></analytic><series><title level="j">Genetic testing and molecular biomarkers</title><idno type="eISSN">1945-0257</idno><imprint><date when="2012" type="published">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult (MeSH)</term><term>African Continental Ancestry Group (genetics)</term><term>DNA Repair (genetics)</term><term>DNA-Binding Proteins (genetics)</term><term>DNA-Binding Proteins (metabolism)</term><term>Female (MeSH)</term><term>Gene Frequency (MeSH)</term><term>Genotype (MeSH)</term><term>Humans (MeSH)</term><term>Male (MeSH)</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>Risk Factors (MeSH)</term><term>Tunisia (MeSH)</term><term>X-ray Repair Cross Complementing Protein 1 (MeSH)</term><term>Young Adult (MeSH)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adulte (MeSH)</term><term>Adulte d'âge moyen (MeSH)</term><term>Facteurs de risque (MeSH)</term><term>Femelle (MeSH)</term><term>Fréquence d'allèle (MeSH)</term><term>Génotype (MeSH)</term><term>Humains (MeSH)</term><term>Jeune adulte (MeSH)</term><term>Mâle (MeSH)</term><term>Polymorphisme de nucléotide simple (MeSH)</term><term>Polymorphisme de restriction (MeSH)</term><term>Population d'origine africaine (génétique)</term><term>Protéine-1 de complémentation croisée de la réparation des lésions induites par les rayons X (MeSH)</term><term>Protéines de liaison à l'ADN (génétique)</term><term>Protéines de liaison à l'ADN (métabolisme)</term><term>Réaction de polymérisation en chaîne (MeSH)</term><term>Réparation de l'ADN (génétique)</term><term>Tunisie (MeSH)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA-Binding Proteins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>African Continental Ancestry Group</term><term>DNA Repair</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Population d'origine africaine</term><term>Protéines de liaison à l'ADN</term><term>Réparation de l'ADN</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>DNA-Binding Proteins</term></keywords><keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Protéines de liaison à l'ADN</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Female</term><term>Gene Frequency</term><term>Genotype</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>Risk Factors</term><term>Tunisia</term><term>X-ray Repair Cross Complementing Protein 1</term><term>Young Adult</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adulte</term><term>Adulte d'âge moyen</term><term>Facteurs de risque</term><term>Femelle</term><term>Fréquence d'allèle</term><term>Génotype</term><term>Humains</term><term>Jeune adulte</term><term>Mâle</term><term>Polymorphisme de nucléotide simple</term><term>Polymorphisme de restriction</term><term>Protéine-1 de complémentation croisée de la réparation des lésions induites par les rayons X</term><term>Réaction de polymérisation en chaîne</term><term>Tunisie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The genetic polymorphisms in DNA repair genes might affect the repair activities of the enzymes, predisposing individuals to cancer risk. Due to these genetic variants, interethnic differences in DNA repair capacity were observed in various populations. Hence, our study aimed to determine the prevalence of three nonsynonymous single-nucleotide polymorphisms (SNPs) in an X-ray repair cross-complementation group 1 gene (XRCC1) (Arg194Trp, Arg280His, and Arg399Gln) in a healthy Tunisian population (TUN) and to compare that with HapMap ( www.hapmap.org ) populations. Also, we predicted their eventual functional effect based on the protein conservation analysis by Sorting Intolerant From Tolerant (SIFT; http://sift.jcvi.org/www/SIFT_dbSNP.html ) software. The genotypes of 154 healthy individuals were determined by the polymerase chain reaction-restriction fragment length polymorphism. Tunisians showed a relative relatedness with Caucasians (European ancestry) for Arg194Trp and Arg399Gln that may be explained by the strategic geographic location of Tunisia in the Mediterranean, allowing exchanges with European countries. However, a characteristic pattern was observed in Arg280His polymorphism, which could be explained by the high inbreeding rate in TUN. The analysis of protein conservation showed that the three amino acid substitutions were predicted as damaged. The results presented here provide the first report on XRCC1 polymorphisms about Tunisians and may establish baseline database for our future clinical and genetic studies.</div></front></TEI><affiliations><list><country><li>Tunisie</li></country></list><tree><noCountry><name sortKey="Ayadi, Hammadi" sort="Ayadi, Hammadi" uniqKey="Ayadi H" first="Hammadi" last="Ayadi">Hammadi Ayadi</name><name sortKey="Ayadi, Imen" sort="Ayadi, Imen" uniqKey="Ayadi I" first="Imen" last="Ayadi">Imen Ayadi</name><name sortKey="Fakhfakh, Faiza" sort="Fakhfakh, Faiza" uniqKey="Fakhfakh F" first="Faiza" last="Fakhfakh">Faiza Fakhfakh</name><name sortKey="Fendri Kriaa, Nourhene" sort="Fendri Kriaa, Nourhene" uniqKey="Fendri Kriaa N" first="Nourhene" last="Fendri-Kriaa">Nourhene Fendri-Kriaa</name><name sortKey="Fourati, Amine" sort="Fourati, Amine" uniqKey="Fourati A" first="Amine" last="Fourati">Amine Fourati</name><name sortKey="Kallabi, Fakhri" sort="Kallabi, Fakhri" uniqKey="Kallabi F" first="Fakhri" last="Kallabi">Fakhri Kallabi</name><name sortKey="Kamoun, Hassen" sort="Kamoun, Hassen" uniqKey="Kamoun H" first="Hassen" last="Kamoun">Hassen Kamoun</name><name sortKey="Mkaouar Rebai, Emna" sort="Mkaouar Rebai, Emna" uniqKey="Mkaouar Rebai E" first="Emna" last="Mkaouar-Rebai">Emna Mkaouar-Rebai</name></noCountry><country name="Tunisie"><noRegion><name sortKey="Salah, Ghada Ben" sort="Salah, Ghada Ben" uniqKey="Salah G" first="Ghada Ben" last="Salah">Ghada Ben Salah</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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