title: The T-->C mutation at position +96 of the untranslated region 3' to the terminating codon of the beta-globin gene is a rare polymorphism that does not cause a beta-thalassemia as previously ascribed.
abstract: We have observed a T-->C mutation at position +96 of the untranslated region 3' to the terminating codon of the beta-globin gene in members of two Czech families and one black family. Data from initial studies suggested that this change was the cause of a beta-thalassemia, but continued analyses have provided convincing evidence that this mutation is a simple polymorphism.
authors.affiliation: Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.
authors.forename: V
authors.initials: V
authors.lastname: Divoky
authors.forename: E
authors.initials: E
authors.lastname: Baysal
authors.forename: R
authors.initials: R
authors.lastname: Oner
authors.forename: M A
authors.initials: MA
authors.lastname: Cürük
authors.forename: E L
authors.initials: EL
authors.lastname: Walker
authors.forename: K
authors.initials: K
authors.lastname: Indrak
authors.forename: T H
authors.initials: TH
authors.lastname: Huisman
mesh_terms: D000328:Adult; D003062:Codon; D003596:Cytosine; D005260:Female; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D017354:Point Mutation; D011110:Polymorphism, Genetic; D014176:Protein Biosynthesis; D013728:Terminator Regions, Genetic; D013936:Thymidine; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D003062:Codon; D003596:Cytosine; D005914:Globins; D013936:Thymidine