beta 0 thalassemia, a nonsense mutation in man.
We determined the complete nucleotide sequence of the 5' noncoding region and the first 74 amino acids of the nonfunctional beta-globin mRNA in a patient with homozygous beta 0 thalassemia. We identified the molecular defect as a single nucleotide substitution in the coding region of the mRNA. At the position corresponding to amino acid 17, replacement of an adenine by a uracil changes the triplet AAG, which codes for lysine in the normal beta chain, to an amber termination codon, UAG. This type of beta 0 thalassemia represents an example of a nonsense mutation in man.
D001483:Base Sequence; D005815:Genetic Code; D005914:Globins / Q000096:biosynthesis*; D006801:Humans; D009154:Mutation; D009693:Nucleic Acid Hybridization; D014176:Protein Biosynthesis; D012333:RNA, Messenger / Q000097:blood* / Q000235:genetics; D012194:RNA-Directed DNA Polymerase; D013789:Thalassemia / Q000097:blood*
D012333:RNA, Messenger; D005914:Globins; D012194:RNA-Directed DNA Polymerase