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.
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.
Divoky
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V
Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.
Baysal
E
E
Oner
R
R
Cürük
M A
MA
Walker
E L
EL
Indrak
K
K
Huisman
T H
TH
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*
D003062:Codon; D003596:Cytosine; D005914:Globins; D013936:Thymidine