Confirmation of a founder effect in a Northern European population of a new [beta]-globin variant: HBB:c.23_26dup (codons 8/9 (+AGAA))
β-Thalassemia is a genetic disease caused by a defect in the production of the β-like globin chain. More than 200 known different variants can lead to the disease and are mainly found in populations that have been exposed to malaria parasites. We recently described a duplication of four nucleotides...
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Veröffentlicht in: | European journal of human genetics : EJHG 2015-09, Vol.23 (9), p.1158 |
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creator | Marchi, Nina Pissard, Serge Cliquennois, Manuel Vasseur, Christian Le Metayer, Nathalie Mereau, Claude Jouet, Jean Pierre Georgel, Anne-france Genin, Emmanuelle Rose, Christian |
description | β-Thalassemia is a genetic disease caused by a defect in the production of the β-like globin chain. More than 200 known different variants can lead to the disease and are mainly found in populations that have been exposed to malaria parasites. We recently described a duplication of four nucleotides in the first exon of β-globin gene in several families of patients living in Nord-Pas-de-Calais (France). Using the genotypes at 12 microsatellite markers surrounding the β-globin gene of four unrelated variant carriers plus an additional one recently discovered, we found that they shared a common haplotype indicating a founder effect that was estimated to have taken place 225 years ago (nine generations). In order to determine whether this variant arose in this region of Northern Europe or was introduced by migrants from regions of the world where thalassemia is endemic, we genotyped the first 4 unrelated variant carriers and 32 controls from Nord-Pas-de-Calais for 97 European ancestry informative markers (EAIMs). Using these EAIMs and comparing with population reference panels, we demonstrated that the variant carriers were very similar to the controls and were closer to North European populations than to South European or Middle-East populations. Rare β-thalassemia variants have already been described in patients sampled in non-endemic regions, but it is the first proof of a founder effect in Northern Europe. |
doi_str_mv | 10.1038/ejhg.2014.263 |
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More than 200 known different variants can lead to the disease and are mainly found in populations that have been exposed to malaria parasites. We recently described a duplication of four nucleotides in the first exon of β-globin gene in several families of patients living in Nord-Pas-de-Calais (France). Using the genotypes at 12 microsatellite markers surrounding the β-globin gene of four unrelated variant carriers plus an additional one recently discovered, we found that they shared a common haplotype indicating a founder effect that was estimated to have taken place 225 years ago (nine generations). In order to determine whether this variant arose in this region of Northern Europe or was introduced by migrants from regions of the world where thalassemia is endemic, we genotyped the first 4 unrelated variant carriers and 32 controls from Nord-Pas-de-Calais for 97 European ancestry informative markers (EAIMs). Using these EAIMs and comparing with population reference panels, we demonstrated that the variant carriers were very similar to the controls and were closer to North European populations than to South European or Middle-East populations. Rare β-thalassemia variants have already been described in patients sampled in non-endemic regions, but it is the first proof of a founder effect in Northern Europe.</description><identifier>ISSN: 1018-4813</identifier><identifier>EISSN: 1476-5438</identifier><identifier>DOI: 10.1038/ejhg.2014.263</identifier><language>eng</language><publisher>Leiden: Nature Publishing Group</publisher><subject>Codons ; Disease ; Founder effect ; Genealogy ; Genetic markers ; Genetics ; Genotypes ; Hematology ; Malaria ; Microsatellites ; Mutation ; Nucleotides ; Parasites ; Population ; Studies ; Systematic review ; Thalassemia</subject><ispartof>European journal of human genetics : EJHG, 2015-09, Vol.23 (9), p.1158</ispartof><rights>Copyright Nature Publishing Group Sep 2015</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids></links><search><creatorcontrib>Marchi, Nina</creatorcontrib><creatorcontrib>Pissard, Serge</creatorcontrib><creatorcontrib>Cliquennois, Manuel</creatorcontrib><creatorcontrib>Vasseur, Christian</creatorcontrib><creatorcontrib>Le Metayer, Nathalie</creatorcontrib><creatorcontrib>Mereau, Claude</creatorcontrib><creatorcontrib>Jouet, Jean Pierre</creatorcontrib><creatorcontrib>Georgel, Anne-france</creatorcontrib><creatorcontrib>Genin, Emmanuelle</creatorcontrib><creatorcontrib>Rose, Christian</creatorcontrib><title>Confirmation of a founder effect in a Northern European population of a new [beta]-globin variant: HBB:c.23_26dup (codons 8/9 (+AGAA))</title><title>European journal of human genetics : EJHG</title><description>β-Thalassemia is a genetic disease caused by a defect in the production of the β-like globin chain. More than 200 known different variants can lead to the disease and are mainly found in populations that have been exposed to malaria parasites. We recently described a duplication of four nucleotides in the first exon of β-globin gene in several families of patients living in Nord-Pas-de-Calais (France). Using the genotypes at 12 microsatellite markers surrounding the β-globin gene of four unrelated variant carriers plus an additional one recently discovered, we found that they shared a common haplotype indicating a founder effect that was estimated to have taken place 225 years ago (nine generations). In order to determine whether this variant arose in this region of Northern Europe or was introduced by migrants from regions of the world where thalassemia is endemic, we genotyped the first 4 unrelated variant carriers and 32 controls from Nord-Pas-de-Calais for 97 European ancestry informative markers (EAIMs). Using these EAIMs and comparing with population reference panels, we demonstrated that the variant carriers were very similar to the controls and were closer to North European populations than to South European or Middle-East populations. Rare β-thalassemia variants have already been described in patients sampled in non-endemic regions, but it is the first proof of a founder effect in Northern Europe.</description><subject>Codons</subject><subject>Disease</subject><subject>Founder effect</subject><subject>Genealogy</subject><subject>Genetic markers</subject><subject>Genetics</subject><subject>Genotypes</subject><subject>Hematology</subject><subject>Malaria</subject><subject>Microsatellites</subject><subject>Mutation</subject><subject>Nucleotides</subject><subject>Parasites</subject><subject>Population</subject><subject>Studies</subject><subject>Systematic review</subject><subject>Thalassemia</subject><issn>1018-4813</issn><issn>1476-5438</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqNiz1PwzAURS0EEuVjZH8SSyuU1I6T2HRLq0InJjaEIjex20TBLzg2_IP-bjwwMDLdq3vPIeSO0ZRRLpe6Px7SjLI8zUp-RmYsF2VS5Fyex06ZTHLJ-CW5mqaeRkoINiOnDVrTuQ_lO7SABhQYDLbVDrQxuvHQ2bi9oPNH7Sxsg8NRKwsjjmH4Y1n9DW977dV7chhwH60v5Tpl_Qp26_WqSTNeZ2UbRpg32KKdQC4fYf5QPVfVYnFDLowaJn37m9fk_mn7utklo8PPoCdf9xicjVfNBOWFYKLI-P-oHxsqVRs</recordid><startdate>20150901</startdate><enddate>20150901</enddate><creator>Marchi, Nina</creator><creator>Pissard, Serge</creator><creator>Cliquennois, Manuel</creator><creator>Vasseur, Christian</creator><creator>Le Metayer, Nathalie</creator><creator>Mereau, Claude</creator><creator>Jouet, Jean Pierre</creator><creator>Georgel, Anne-france</creator><creator>Genin, Emmanuelle</creator><creator>Rose, Christian</creator><general>Nature Publishing Group</general><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>8AO</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope></search><sort><creationdate>20150901</creationdate><title>Confirmation of a founder effect in a Northern European population of a new [beta]-globin variant: HBB:c.23_26dup (codons 8/9 (+AGAA))</title><author>Marchi, Nina ; 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More than 200 known different variants can lead to the disease and are mainly found in populations that have been exposed to malaria parasites. We recently described a duplication of four nucleotides in the first exon of β-globin gene in several families of patients living in Nord-Pas-de-Calais (France). Using the genotypes at 12 microsatellite markers surrounding the β-globin gene of four unrelated variant carriers plus an additional one recently discovered, we found that they shared a common haplotype indicating a founder effect that was estimated to have taken place 225 years ago (nine generations). In order to determine whether this variant arose in this region of Northern Europe or was introduced by migrants from regions of the world where thalassemia is endemic, we genotyped the first 4 unrelated variant carriers and 32 controls from Nord-Pas-de-Calais for 97 European ancestry informative markers (EAIMs). Using these EAIMs and comparing with population reference panels, we demonstrated that the variant carriers were very similar to the controls and were closer to North European populations than to South European or Middle-East populations. Rare β-thalassemia variants have already been described in patients sampled in non-endemic regions, but it is the first proof of a founder effect in Northern Europe.</abstract><cop>Leiden</cop><pub>Nature Publishing Group</pub><doi>10.1038/ejhg.2014.263</doi></addata></record> |
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subjects | Codons Disease Founder effect Genealogy Genetic markers Genetics Genotypes Hematology Malaria Microsatellites Mutation Nucleotides Parasites Population Studies Systematic review Thalassemia |
title | Confirmation of a founder effect in a Northern European population of a new [beta]-globin variant: HBB:c.23_26dup (codons 8/9 (+AGAA)) |
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