PubMed:6196781 JSONTXT

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":148,"end":160},"obj":"gene:3047"},{"id":"T1","span":{"begin":72,"end":114},"obj":"disease:C0019025"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Different 3' end points of deletions causing delta beta-thalassemia and hereditary persistence of fetal hemoglobin: implications for the control of gamma-globin gene expression in man.\nDNA at the end point of the gene deletion associated with one form of hereditary persistence of fetal hemoglobin (HPFH) was cloned and used as a probe in gene mapping experiments to analyze the extent and approximate 3' end points of various deletions associated with HPFH and delta beta-thalassemia. The deletions in the two known forms of deletion-type HPFH were shown to be considerably more extensive than in the two cases of delta beta-thalassemia studied. The overall extents of the deletions in the two types of HPFH were quite similar in both cases and the 3' end points were located at a minimum distance of approximately equal to 52 and 57 kilobases from the 3' extremity of the beta-globin gene. In contrast, the 3' end points of the deletions in the two forms of delta beta-thalassemia were located approximately equal to 5 and 10 kilobases to the 3' side of the beta-globin gene. The extent of these deletions and the nature of the DNA brought into the vicinity of the gamma-globin genes by the deletions may therefore be a more important influence on the phenotype of the deletions than the specific nature of the DNA sequences that are deleted within the non-alpha-globin gene cluster as a result of the mutations."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"6196781-0#148#160#gene3047","span":{"begin":148,"end":160},"obj":"gene3047"},{"id":"6196781-0#45#67#diseaseC0271985","span":{"begin":45,"end":67},"obj":"diseaseC0271985"},{"id":"6196781-0#72#114#diseaseC0019025","span":{"begin":72,"end":114},"obj":"diseaseC0019025"},{"id":"6196781-4#168#179#gene3043","span":{"begin":1060,"end":1071},"obj":"gene3043"},{"id":"6196781-4#68#90#diseaseC0271985","span":{"begin":960,"end":982},"obj":"diseaseC0271985"}],"relations":[{"id":"148#160#gene304745#67#diseaseC0271985","pred":"associated_with","subj":"6196781-0#148#160#gene3047","obj":"6196781-0#45#67#diseaseC0271985"},{"id":"148#160#gene304772#114#diseaseC0019025","pred":"associated_with","subj":"6196781-0#148#160#gene3047","obj":"6196781-0#72#114#diseaseC0019025"},{"id":"168#179#gene304368#90#diseaseC0271985","pred":"associated_with","subj":"6196781-4#168#179#gene3043","obj":"6196781-4#68#90#diseaseC0271985"}],"text":"Different 3' end points of deletions causing delta beta-thalassemia and hereditary persistence of fetal hemoglobin: implications for the control of gamma-globin gene expression in man.\nDNA at the end point of the gene deletion associated with one form of hereditary persistence of fetal hemoglobin (HPFH) was cloned and used as a probe in gene mapping experiments to analyze the extent and approximate 3' end points of various deletions associated with HPFH and delta beta-thalassemia. The deletions in the two known forms of deletion-type HPFH were shown to be considerably more extensive than in the two cases of delta beta-thalassemia studied. The overall extents of the deletions in the two types of HPFH were quite similar in both cases and the 3' end points were located at a minimum distance of approximately equal to 52 and 57 kilobases from the 3' extremity of the beta-globin gene. In contrast, the 3' end points of the deletions in the two forms of delta beta-thalassemia were located approximately equal to 5 and 10 kilobases to the 3' side of the beta-globin gene. The extent of these deletions and the nature of the DNA brought into the vicinity of the gamma-globin genes by the deletions may therefore be a more important influence on the phenotype of the deletions than the specific nature of the DNA sequences that are deleted within the non-alpha-globin gene cluster as a result of the mutations."}