PubMed:28851297 JSON TXT

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LitCoin-entities-OrganismTaxon-PD

{"project":"LitCoin-entities-OrganismTaxon-PD","denotations":[{"id":"T1","span":{"begin":1057,"end":1062},"obj":"OrganismTaxon"},{"id":"T2","span":{"begin":1076,"end":1081},"obj":"OrganismTaxon"},{"id":"T4","span":{"begin":1492,"end":1501},"obj":"OrganismTaxon"},{"id":"T5","span":{"begin":2149,"end":2158},"obj":"OrganismTaxon"}],"attributes":[{"id":"A1","pred":"db_id","subj":"T1","obj":"NCBItxid:9606"},{"id":"A2","pred":"db_id","subj":"T2","obj":"NCBItxid:10090"},{"id":"A3","pred":"db_id","subj":"T2","obj":"NCBItxid:10088"},{"id":"A4","pred":"db_id","subj":"T4","obj":"NCBItxid:94794"},{"id":"A5","pred":"db_id","subj":"T5","obj":"NCBItxid:94794"}],"text":"An Aγ-globin G-\u003eA gene polymorphism associated with β039 thalassemia globin gene and high fetal hemoglobin production.\nBACKGROUND: Increase of the expression of γ-globin gene and high production of fetal hemoglobin (HbF) in β-thalassemia patients is widely accepted as associated with a milder or even asymptomatic disease. The search for HbF-associated polymorphisms (such as the XmnI, BCL11A and MYB polymorphisms) has recently gained great attention, in order to stratify β-thalassemia patients with respect to expectancy of the first transfusion, need for annual intake of blood, response to HbF inducers (the most studied of which is hydroxyurea).\nMETHODS: Aγ-globin gene sequencing was performed on genomic DNA isolated from a total of 75 β-thalassemia patients, including 31 β039/β039, 33 β039/β+IVSI-110, 9 β+IVSI-110/β+IVSI-110, one β0IVSI-1/β+IVSI-6 and one β039/β+IVSI-6.\nRESULTS: The results show that the rs368698783 polymorphism is present in β-thalassemia patients in the 5'UTR sequence (+25) of the Aγ-globin gene, known to affect the LYAR (human homologue of mouse Ly-1 antibody reactive clone) binding site 5'-GGTTAT-3'. This Aγ(+25 G-\u003eA) polymorphism is associated with the Gγ-globin-XmnI polymorphism and both are linked with the β039-globin gene, but not with the β+IVSI-110-globin gene. In agreement with the expectation that this mutation alters the LYAR binding activity, we found that the Aγ(+25 G-\u003eA) and Gγ-globin-XmnI polymorphisms are associated with high HbF in erythroid precursor cells isolated from β039/β039 thalassemia patients.\nCONCLUSIONS: As a potential explanation of our findings, we hypothesize that in β-thalassemia the Gγ-globin-XmnI/Aγ-globin-(G-\u003eA) genotype is frequently under genetic linkage with β0-thalassemia mutations, but not with the β+-thalassemia mutation here studied (i.e. β+IVSI-110) and that this genetic combination has been selected within the population of β0-thalassemia patients, due to functional association with high HbF. Here we describe the characterization of the rs368698783 (+25 G-\u003eA) polymorphism of the Aγ-globin gene associated in β039 thalassemia patients with high HbF in erythroid precursor cells."}

LitCoin-sentences

{"project":"LitCoin-sentences","denotations":[{"id":"T1","span":{"begin":0,"end":118},"obj":"Sentence"},{"id":"T2","span":{"begin":119,"end":130},"obj":"Sentence"},{"id":"T3","span":{"begin":131,"end":323},"obj":"Sentence"},{"id":"T4","span":{"begin":324,"end":652},"obj":"Sentence"},{"id":"T5","span":{"begin":653,"end":882},"obj":"Sentence"},{"id":"T6","span":{"begin":883,"end":891},"obj":"Sentence"},{"id":"T7","span":{"begin":892,"end":1138},"obj":"Sentence"},{"id":"T8","span":{"begin":1139,"end":1308},"obj":"Sentence"},{"id":"T9","span":{"begin":1309,"end":1563},"obj":"Sentence"},{"id":"T10","span":{"begin":1564,"end":1576},"obj":"Sentence"},{"id":"T11","span":{"begin":1577,"end":1988},"obj":"Sentence"},{"id":"T12","span":{"begin":1989,"end":2175},"obj":"Sentence"}],"text":"An Aγ-globin G-\u003eA gene polymorphism associated with β039 thalassemia globin gene and high fetal hemoglobin production.\nBACKGROUND: Increase of the expression of γ-globin gene and high production of fetal hemoglobin (HbF) in β-thalassemia patients is widely accepted as associated with a milder or even asymptomatic disease. The search for HbF-associated polymorphisms (such as the XmnI, BCL11A and MYB polymorphisms) has recently gained great attention, in order to stratify β-thalassemia patients with respect to expectancy of the first transfusion, need for annual intake of blood, response to HbF inducers (the most studied of which is hydroxyurea).\nMETHODS: Aγ-globin gene sequencing was performed on genomic DNA isolated from a total of 75 β-thalassemia patients, including 31 β039/β039, 33 β039/β+IVSI-110, 9 β+IVSI-110/β+IVSI-110, one β0IVSI-1/β+IVSI-6 and one β039/β+IVSI-6.\nRESULTS: The results show that the rs368698783 polymorphism is present in β-thalassemia patients in the 5'UTR sequence (+25) of the Aγ-globin gene, known to affect the LYAR (human homologue of mouse Ly-1 antibody reactive clone) binding site 5'-GGTTAT-3'. This Aγ(+25 G-\u003eA) polymorphism is associated with the Gγ-globin-XmnI polymorphism and both are linked with the β039-globin gene, but not with the β+IVSI-110-globin gene. In agreement with the expectation that this mutation alters the LYAR binding activity, we found that the Aγ(+25 G-\u003eA) and Gγ-globin-XmnI polymorphisms are associated with high HbF in erythroid precursor cells isolated from β039/β039 thalassemia patients.\nCONCLUSIONS: As a potential explanation of our findings, we hypothesize that in β-thalassemia the Gγ-globin-XmnI/Aγ-globin-(G-\u003eA) genotype is frequently under genetic linkage with β0-thalassemia mutations, but not with the β+-thalassemia mutation here studied (i.e. β+IVSI-110) and that this genetic combination has been selected within the population of β0-thalassemia patients, due to functional association with high HbF. Here we describe the characterization of the rs368698783 (+25 G-\u003eA) polymorphism of the Aγ-globin gene associated in β039 thalassemia patients with high HbF in erythroid precursor cells."}

LitCoin-entities

LitCoin_Mondo

{"project":"LitCoin_Mondo","denotations":[{"id":"T1","span":{"begin":57,"end":68},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":226,"end":237},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":477,"end":488},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":747,"end":758},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":959,"end":970},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":1542,"end":1553},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T7","span":{"begin":1646,"end":1657},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T8","span":{"begin":1747,"end":1758},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T9","span":{"begin":1790,"end":1801},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T10","span":{"begin":1922,"end":1933},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T11","span":{"begin":2111,"end":2122},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A5","pred":"mondo_id","subj":"T5","obj":"0000984"},{"id":"A4","pred":"mondo_id","subj":"T4","obj":"0000984"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"0000984"},{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0000984"},{"id":"A11","pred":"mondo_id","subj":"T11","obj":"0000984"},{"id":"A9","pred":"mondo_id","subj":"T9","obj":"0000984"},{"id":"A6","pred":"mondo_id","subj":"T6","obj":"0000984"},{"id":"A7","pred":"mondo_id","subj":"T7","obj":"0000984"},{"id":"A8","pred":"mondo_id","subj":"T8","obj":"0000984"},{"id":"A10","pred":"mondo_id","subj":"T10","obj":"0000984"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"0000984"}],"text":"An Aγ-globin G-\u003eA gene polymorphism associated with β039 thalassemia globin gene and high fetal hemoglobin production.\nBACKGROUND: Increase of the expression of γ-globin gene and high production of fetal hemoglobin (HbF) in β-thalassemia patients is widely accepted as associated with a milder or even asymptomatic disease. The search for HbF-associated polymorphisms (such as the XmnI, BCL11A and MYB polymorphisms) has recently gained great attention, in order to stratify β-thalassemia patients with respect to expectancy of the first transfusion, need for annual intake of blood, response to HbF inducers (the most studied of which is hydroxyurea).\nMETHODS: Aγ-globin gene sequencing was performed on genomic DNA isolated from a total of 75 β-thalassemia patients, including 31 β039/β039, 33 β039/β+IVSI-110, 9 β+IVSI-110/β+IVSI-110, one β0IVSI-1/β+IVSI-6 and one β039/β+IVSI-6.\nRESULTS: The results show that the rs368698783 polymorphism is present in β-thalassemia patients in the 5'UTR sequence (+25) of the Aγ-globin gene, known to affect the LYAR (human homologue of mouse Ly-1 antibody reactive clone) binding site 5'-GGTTAT-3'. This Aγ(+25 G-\u003eA) polymorphism is associated with the Gγ-globin-XmnI polymorphism and both are linked with the β039-globin gene, but not with the β+IVSI-110-globin gene. In agreement with the expectation that this mutation alters the LYAR binding activity, we found that the Aγ(+25 G-\u003eA) and Gγ-globin-XmnI polymorphisms are associated with high HbF in erythroid precursor cells isolated from β039/β039 thalassemia patients.\nCONCLUSIONS: As a potential explanation of our findings, we hypothesize that in β-thalassemia the Gγ-globin-XmnI/Aγ-globin-(G-\u003eA) genotype is frequently under genetic linkage with β0-thalassemia mutations, but not with the β+-thalassemia mutation here studied (i.e. β+IVSI-110) and that this genetic combination has been selected within the population of β0-thalassemia patients, due to functional association with high HbF. Here we describe the characterization of the rs368698783 (+25 G-\u003eA) polymorphism of the Aγ-globin gene associated in β039 thalassemia patients with high HbF in erythroid precursor cells."}

LitCoin-SeqVar

{"project":"LitCoin-SeqVar","denotations":[{"id":"T1","span":{"begin":918,"end":929},"obj":"SequenceVariant"},{"id":"T2","span":{"begin":2034,"end":2045},"obj":"SequenceVariant"}],"text":"An Aγ-globin G-\u003eA gene polymorphism associated with β039 thalassemia globin gene and high fetal hemoglobin production.\nBACKGROUND: Increase of the expression of γ-globin gene and high production of fetal hemoglobin (HbF) in β-thalassemia patients is widely accepted as associated with a milder or even asymptomatic disease. The search for HbF-associated polymorphisms (such as the XmnI, BCL11A and MYB polymorphisms) has recently gained great attention, in order to stratify β-thalassemia patients with respect to expectancy of the first transfusion, need for annual intake of blood, response to HbF inducers (the most studied of which is hydroxyurea).\nMETHODS: Aγ-globin gene sequencing was performed on genomic DNA isolated from a total of 75 β-thalassemia patients, including 31 β039/β039, 33 β039/β+IVSI-110, 9 β+IVSI-110/β+IVSI-110, one β0IVSI-1/β+IVSI-6 and one β039/β+IVSI-6.\nRESULTS: The results show that the rs368698783 polymorphism is present in β-thalassemia patients in the 5'UTR sequence (+25) of the Aγ-globin gene, known to affect the LYAR (human homologue of mouse Ly-1 antibody reactive clone) binding site 5'-GGTTAT-3'. This Aγ(+25 G-\u003eA) polymorphism is associated with the Gγ-globin-XmnI polymorphism and both are linked with the β039-globin gene, but not with the β+IVSI-110-globin gene. In agreement with the expectation that this mutation alters the LYAR binding activity, we found that the Aγ(+25 G-\u003eA) and Gγ-globin-XmnI polymorphisms are associated with high HbF in erythroid precursor cells isolated from β039/β039 thalassemia patients.\nCONCLUSIONS: As a potential explanation of our findings, we hypothesize that in β-thalassemia the Gγ-globin-XmnI/Aγ-globin-(G-\u003eA) genotype is frequently under genetic linkage with β0-thalassemia mutations, but not with the β+-thalassemia mutation here studied (i.e. β+IVSI-110) and that this genetic combination has been selected within the population of β0-thalassemia patients, due to functional association with high HbF. Here we describe the characterization of the rs368698783 (+25 G-\u003eA) polymorphism of the Aγ-globin gene associated in β039 thalassemia patients with high HbF in erythroid precursor cells."}

LitCoin-GeneOrGeneProduct-v0

LitCoin-GeneOrGeneProduct-v2

LitCoin-Disease-MeSH

LitCoin-GeneOrGeneProduct-v3

{"project":"LitCoin-GeneOrGeneProduct-v3","denotations":[{"id":"T1","span":{"begin":6,"end":14},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":69,"end":75},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":96,"end":106},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":163,"end":169},"obj":"GeneOrGeneProduct"},{"id":"T5","span":{"begin":204,"end":214},"obj":"GeneOrGeneProduct"},{"id":"T6","span":{"begin":387,"end":393},"obj":"GeneOrGeneProduct"},{"id":"T7","span":{"begin":437,"end":442},"obj":"GeneOrGeneProduct"},{"id":"T8","span":{"begin":665,"end":671},"obj":"GeneOrGeneProduct"},{"id":"T9","span":{"begin":1018,"end":1024},"obj":"GeneOrGeneProduct"},{"id":"T10","span":{"begin":1051,"end":1055},"obj":"GeneOrGeneProduct"},{"id":"T11","span":{"begin":1082,"end":1086},"obj":"GeneOrGeneProduct"},{"id":"T12","span":{"begin":1196,"end":1202},"obj":"GeneOrGeneProduct"},{"id":"T13","span":{"begin":1255,"end":1261},"obj":"GeneOrGeneProduct"},{"id":"T14","span":{"begin":1296,"end":1302},"obj":"GeneOrGeneProduct"},{"id":"T15","span":{"begin":1373,"end":1377},"obj":"GeneOrGeneProduct"},{"id":"T16","span":{"begin":1434,"end":1440},"obj":"GeneOrGeneProduct"},{"id":"T17","span":{"begin":1665,"end":1671},"obj":"GeneOrGeneProduct"},{"id":"T18","span":{"begin":1680,"end":1686},"obj":"GeneOrGeneProduct"},{"id":"T19","span":{"begin":2080,"end":2086},"obj":"GeneOrGeneProduct"}],"text":"An Aγ-globin G-\u003eA gene polymorphism associated with β039 thalassemia globin gene and high fetal hemoglobin production.\nBACKGROUND: Increase of the expression of γ-globin gene and high production of fetal hemoglobin (HbF) in β-thalassemia patients is widely accepted as associated with a milder or even asymptomatic disease. The search for HbF-associated polymorphisms (such as the XmnI, BCL11A and MYB polymorphisms) has recently gained great attention, in order to stratify β-thalassemia patients with respect to expectancy of the first transfusion, need for annual intake of blood, response to HbF inducers (the most studied of which is hydroxyurea).\nMETHODS: Aγ-globin gene sequencing was performed on genomic DNA isolated from a total of 75 β-thalassemia patients, including 31 β039/β039, 33 β039/β+IVSI-110, 9 β+IVSI-110/β+IVSI-110, one β0IVSI-1/β+IVSI-6 and one β039/β+IVSI-6.\nRESULTS: The results show that the rs368698783 polymorphism is present in β-thalassemia patients in the 5'UTR sequence (+25) of the Aγ-globin gene, known to affect the LYAR (human homologue of mouse Ly-1 antibody reactive clone) binding site 5'-GGTTAT-3'. This Aγ(+25 G-\u003eA) polymorphism is associated with the Gγ-globin-XmnI polymorphism and both are linked with the β039-globin gene, but not with the β+IVSI-110-globin gene. In agreement with the expectation that this mutation alters the LYAR binding activity, we found that the Aγ(+25 G-\u003eA) and Gγ-globin-XmnI polymorphisms are associated with high HbF in erythroid precursor cells isolated from β039/β039 thalassemia patients.\nCONCLUSIONS: As a potential explanation of our findings, we hypothesize that in β-thalassemia the Gγ-globin-XmnI/Aγ-globin-(G-\u003eA) genotype is frequently under genetic linkage with β0-thalassemia mutations, but not with the β+-thalassemia mutation here studied (i.e. β+IVSI-110) and that this genetic combination has been selected within the population of β0-thalassemia patients, due to functional association with high HbF. Here we describe the characterization of the rs368698783 (+25 G-\u003eA) polymorphism of the Aγ-globin gene associated in β039 thalassemia patients with high HbF in erythroid precursor cells."}

LitCoin_Mondo_095

{"project":"LitCoin_Mondo_095","denotations":[{"id":"T1","span":{"begin":57,"end":68},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":226,"end":237},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":477,"end":488},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":747,"end":758},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":959,"end":970},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":1542,"end":1553},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T7","span":{"begin":1646,"end":1657},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T8","span":{"begin":1747,"end":1758},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T9","span":{"begin":1790,"end":1801},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T10","span":{"begin":1922,"end":1933},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T11","span":{"begin":2111,"end":2122},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A3","pred":"mondo_id","subj":"T3","obj":"0000984"},{"id":"A8","pred":"mondo_id","subj":"T8","obj":"0000984"},{"id":"A7","pred":"mondo_id","subj":"T7","obj":"0000984"},{"id":"A9","pred":"mondo_id","subj":"T9","obj":"0000984"},{"id":"A6","pred":"mondo_id","subj":"T6","obj":"0000984"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"0000984"},{"id":"A10","pred":"mondo_id","subj":"T10","obj":"0000984"},{"id":"A4","pred":"mondo_id","subj":"T4","obj":"0000984"},{"id":"A5","pred":"mondo_id","subj":"T5","obj":"0000984"},{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0000984"},{"id":"A11","pred":"mondo_id","subj":"T11","obj":"0000984"}],"text":"An Aγ-globin G-\u003eA gene polymorphism associated with β039 thalassemia globin gene and high fetal hemoglobin production.\nBACKGROUND: Increase of the expression of γ-globin gene and high production of fetal hemoglobin (HbF) in β-thalassemia patients is widely accepted as associated with a milder or even asymptomatic disease. The search for HbF-associated polymorphisms (such as the XmnI, BCL11A and MYB polymorphisms) has recently gained great attention, in order to stratify β-thalassemia patients with respect to expectancy of the first transfusion, need for annual intake of blood, response to HbF inducers (the most studied of which is hydroxyurea).\nMETHODS: Aγ-globin gene sequencing was performed on genomic DNA isolated from a total of 75 β-thalassemia patients, including 31 β039/β039, 33 β039/β+IVSI-110, 9 β+IVSI-110/β+IVSI-110, one β0IVSI-1/β+IVSI-6 and one β039/β+IVSI-6.\nRESULTS: The results show that the rs368698783 polymorphism is present in β-thalassemia patients in the 5'UTR sequence (+25) of the Aγ-globin gene, known to affect the LYAR (human homologue of mouse Ly-1 antibody reactive clone) binding site 5'-GGTTAT-3'. This Aγ(+25 G-\u003eA) polymorphism is associated with the Gγ-globin-XmnI polymorphism and both are linked with the β039-globin gene, but not with the β+IVSI-110-globin gene. In agreement with the expectation that this mutation alters the LYAR binding activity, we found that the Aγ(+25 G-\u003eA) and Gγ-globin-XmnI polymorphisms are associated with high HbF in erythroid precursor cells isolated from β039/β039 thalassemia patients.\nCONCLUSIONS: As a potential explanation of our findings, we hypothesize that in β-thalassemia the Gγ-globin-XmnI/Aγ-globin-(G-\u003eA) genotype is frequently under genetic linkage with β0-thalassemia mutations, but not with the β+-thalassemia mutation here studied (i.e. β+IVSI-110) and that this genetic combination has been selected within the population of β0-thalassemia patients, due to functional association with high HbF. Here we describe the characterization of the rs368698783 (+25 G-\u003eA) polymorphism of the Aγ-globin gene associated in β039 thalassemia patients with high HbF in erythroid precursor cells."}

LitCoin-MeSH-Disease-2

{"project":"LitCoin-MeSH-Disease-2","denotations":[{"id":"T1","span":{"begin":57,"end":68},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":226,"end":237},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":302,"end":322},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":477,"end":488},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":747,"end":758},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":959,"end":970},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T7","span":{"begin":1542,"end":1553},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T8","span":{"begin":1646,"end":1657},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T9","span":{"begin":1747,"end":1758},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T10","span":{"begin":1790,"end":1801},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T11","span":{"begin":1922,"end":1933},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T12","span":{"begin":2111,"end":2122},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A9","pred":"ID:","subj":"T9","obj":"D013789"},{"id":"A10","pred":"ID:","subj":"T10","obj":"D013789"},{"id":"A11","pred":"ID:","subj":"T11","obj":"D013789"},{"id":"A5","pred":"ID:","subj":"T5","obj":"D013789"},{"id":"A6","pred":"ID:","subj":"T6","obj":"D013789"},{"id":"A1","pred":"ID:","subj":"T1","obj":"D013789"},{"id":"A3","pred":"ID:","subj":"T3","obj":"D058070"},{"id":"A2","pred":"ID:","subj":"T2","obj":"D013789"},{"id":"A12","pred":"ID:","subj":"T12","obj":"D013789"},{"id":"A4","pred":"ID:","subj":"T4","obj":"D013789"},{"id":"A7","pred":"ID:","subj":"T7","obj":"D013789"},{"id":"A8","pred":"ID:","subj":"T8","obj":"D013789"}],"text":"An Aγ-globin G-\u003eA gene polymorphism associated with β039 thalassemia globin gene and high fetal hemoglobin production.\nBACKGROUND: Increase of the expression of γ-globin gene and high production of fetal hemoglobin (HbF) in β-thalassemia patients is widely accepted as associated with a milder or even asymptomatic disease. The search for HbF-associated polymorphisms (such as the XmnI, BCL11A and MYB polymorphisms) has recently gained great attention, in order to stratify β-thalassemia patients with respect to expectancy of the first transfusion, need for annual intake of blood, response to HbF inducers (the most studied of which is hydroxyurea).\nMETHODS: Aγ-globin gene sequencing was performed on genomic DNA isolated from a total of 75 β-thalassemia patients, including 31 β039/β039, 33 β039/β+IVSI-110, 9 β+IVSI-110/β+IVSI-110, one β0IVSI-1/β+IVSI-6 and one β039/β+IVSI-6.\nRESULTS: The results show that the rs368698783 polymorphism is present in β-thalassemia patients in the 5'UTR sequence (+25) of the Aγ-globin gene, known to affect the LYAR (human homologue of mouse Ly-1 antibody reactive clone) binding site 5'-GGTTAT-3'. This Aγ(+25 G-\u003eA) polymorphism is associated with the Gγ-globin-XmnI polymorphism and both are linked with the β039-globin gene, but not with the β+IVSI-110-globin gene. In agreement with the expectation that this mutation alters the LYAR binding activity, we found that the Aγ(+25 G-\u003eA) and Gγ-globin-XmnI polymorphisms are associated with high HbF in erythroid precursor cells isolated from β039/β039 thalassemia patients.\nCONCLUSIONS: As a potential explanation of our findings, we hypothesize that in β-thalassemia the Gγ-globin-XmnI/Aγ-globin-(G-\u003eA) genotype is frequently under genetic linkage with β0-thalassemia mutations, but not with the β+-thalassemia mutation here studied (i.e. β+IVSI-110) and that this genetic combination has been selected within the population of β0-thalassemia patients, due to functional association with high HbF. Here we describe the characterization of the rs368698783 (+25 G-\u003eA) polymorphism of the Aγ-globin gene associated in β039 thalassemia patients with high HbF in erythroid precursor cells."}

LitCoin-MONDO_bioort2019

{"project":"LitCoin-MONDO_bioort2019","denotations":[{"id":"T1","span":{"begin":57,"end":68},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":226,"end":237},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":302,"end":322},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":477,"end":488},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":747,"end":758},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":959,"end":970},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T7","span":{"begin":1542,"end":1553},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T8","span":{"begin":1646,"end":1657},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T9","span":{"begin":1747,"end":1758},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T10","span":{"begin":1790,"end":1801},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T11","span":{"begin":1922,"end":1933},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T12","span":{"begin":2111,"end":2122},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A5","pred":"#label","subj":"T5","obj":"D013789"},{"id":"A8","pred":"#label","subj":"T8","obj":"D013789"},{"id":"A10","pred":"#label","subj":"T10","obj":"D013789"},{"id":"A12","pred":"#label","subj":"T12","obj":"D013789"},{"id":"A1","pred":"#label","subj":"T1","obj":"D013789"},{"id":"A11","pred":"#label","subj":"T11","obj":"D013789"},{"id":"A3","pred":"#label","subj":"T3","obj":"D058070"},{"id":"A2","pred":"#label","subj":"T2","obj":"D013789"},{"id":"A6","pred":"#label","subj":"T6","obj":"D013789"},{"id":"A4","pred":"#label","subj":"T4","obj":"D013789"},{"id":"A7","pred":"#label","subj":"T7","obj":"D013789"},{"id":"A9","pred":"#label","subj":"T9","obj":"D013789"}],"text":"An Aγ-globin G-\u003eA gene polymorphism associated with β039 thalassemia globin gene and high fetal hemoglobin production.\nBACKGROUND: Increase of the expression of γ-globin gene and high production of fetal hemoglobin (HbF) in β-thalassemia patients is widely accepted as associated with a milder or even asymptomatic disease. The search for HbF-associated polymorphisms (such as the XmnI, BCL11A and MYB polymorphisms) has recently gained great attention, in order to stratify β-thalassemia patients with respect to expectancy of the first transfusion, need for annual intake of blood, response to HbF inducers (the most studied of which is hydroxyurea).\nMETHODS: Aγ-globin gene sequencing was performed on genomic DNA isolated from a total of 75 β-thalassemia patients, including 31 β039/β039, 33 β039/β+IVSI-110, 9 β+IVSI-110/β+IVSI-110, one β0IVSI-1/β+IVSI-6 and one β039/β+IVSI-6.\nRESULTS: The results show that the rs368698783 polymorphism is present in β-thalassemia patients in the 5'UTR sequence (+25) of the Aγ-globin gene, known to affect the LYAR (human homologue of mouse Ly-1 antibody reactive clone) binding site 5'-GGTTAT-3'. This Aγ(+25 G-\u003eA) polymorphism is associated with the Gγ-globin-XmnI polymorphism and both are linked with the β039-globin gene, but not with the β+IVSI-110-globin gene. In agreement with the expectation that this mutation alters the LYAR binding activity, we found that the Aγ(+25 G-\u003eA) and Gγ-globin-XmnI polymorphisms are associated with high HbF in erythroid precursor cells isolated from β039/β039 thalassemia patients.\nCONCLUSIONS: As a potential explanation of our findings, we hypothesize that in β-thalassemia the Gγ-globin-XmnI/Aγ-globin-(G-\u003eA) genotype is frequently under genetic linkage with β0-thalassemia mutations, but not with the β+-thalassemia mutation here studied (i.e. β+IVSI-110) and that this genetic combination has been selected within the population of β0-thalassemia patients, due to functional association with high HbF. Here we describe the characterization of the rs368698783 (+25 G-\u003eA) polymorphism of the Aγ-globin gene associated in β039 thalassemia patients with high HbF in erythroid precursor cells."}

LitCoin-Chemical-MeSH-CHEBI

LitCoin-NCBITaxon-2

{"project":"LitCoin-NCBITaxon-2","denotations":[{"id":"T1","span":{"begin":238,"end":246},"obj":"OrganismTaxon"},{"id":"T2","span":{"begin":489,"end":497},"obj":"OrganismTaxon"},{"id":"T3","span":{"begin":759,"end":767},"obj":"OrganismTaxon"},{"id":"T4","span":{"begin":971,"end":979},"obj":"OrganismTaxon"},{"id":"T5","span":{"begin":1057,"end":1062},"obj":"OrganismTaxon"},{"id":"T6","span":{"begin":1076,"end":1081},"obj":"OrganismTaxon"},{"id":"T7","span":{"begin":1492,"end":1501},"obj":"OrganismTaxon"},{"id":"T8","span":{"begin":1554,"end":1562},"obj":"OrganismTaxon"},{"id":"T9","span":{"begin":1934,"end":1942},"obj":"OrganismTaxon"},{"id":"T10","span":{"begin":2123,"end":2131},"obj":"OrganismTaxon"},{"id":"T11","span":{"begin":2149,"end":2158},"obj":"OrganismTaxon"}],"text":"An Aγ-globin G-\u003eA gene polymorphism associated with β039 thalassemia globin gene and high fetal hemoglobin production.\nBACKGROUND: Increase of the expression of γ-globin gene and high production of fetal hemoglobin (HbF) in β-thalassemia patients is widely accepted as associated with a milder or even asymptomatic disease. The search for HbF-associated polymorphisms (such as the XmnI, BCL11A and MYB polymorphisms) has recently gained great attention, in order to stratify β-thalassemia patients with respect to expectancy of the first transfusion, need for annual intake of blood, response to HbF inducers (the most studied of which is hydroxyurea).\nMETHODS: Aγ-globin gene sequencing was performed on genomic DNA isolated from a total of 75 β-thalassemia patients, including 31 β039/β039, 33 β039/β+IVSI-110, 9 β+IVSI-110/β+IVSI-110, one β0IVSI-1/β+IVSI-6 and one β039/β+IVSI-6.\nRESULTS: The results show that the rs368698783 polymorphism is present in β-thalassemia patients in the 5'UTR sequence (+25) of the Aγ-globin gene, known to affect the LYAR (human homologue of mouse Ly-1 antibody reactive clone) binding site 5'-GGTTAT-3'. This Aγ(+25 G-\u003eA) polymorphism is associated with the Gγ-globin-XmnI polymorphism and both are linked with the β039-globin gene, but not with the β+IVSI-110-globin gene. In agreement with the expectation that this mutation alters the LYAR binding activity, we found that the Aγ(+25 G-\u003eA) and Gγ-globin-XmnI polymorphisms are associated with high HbF in erythroid precursor cells isolated from β039/β039 thalassemia patients.\nCONCLUSIONS: As a potential explanation of our findings, we hypothesize that in β-thalassemia the Gγ-globin-XmnI/Aγ-globin-(G-\u003eA) genotype is frequently under genetic linkage with β0-thalassemia mutations, but not with the β+-thalassemia mutation here studied (i.e. β+IVSI-110) and that this genetic combination has been selected within the population of β0-thalassemia patients, due to functional association with high HbF. Here we describe the characterization of the rs368698783 (+25 G-\u003eA) polymorphism of the Aγ-globin gene associated in β039 thalassemia patients with high HbF in erythroid precursor cells."}

LitCoin-training-merged