mRNA-deficient beta o-thalassemia results from a single nucleotide deletion.
The beta-globin gene of a patient with mRNA-deficient beta o-thalassemia has been sequenced. We find a single nucleotide deletion in amino acid codon 44 that produces a UGA terminator at codon 60. We have previously shown that the beta-globin mRNA of this patient is correctly spliced and polyadenylated, but rapidly turns over with a half-life of less than 30 min. We suggest that the rapid mRNA turnover is influenced by the deletion of this single nucleotide as well as by the nonsense codon.
D000293:Adolescent; D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D001853:Bone Marrow / Q000378:metabolism; D003001:Cloning, Molecular; D003062:Codon / Q000235:genetics*; D003596:Cytosine / Q000032:analysis*; D004262:DNA Restriction Enzymes; D005796:Genes; D005914:Globins / Q000235:genetics*; D006207:Half-Life; D006801:Humans; D007700:Kinetics; D008297:Male; D009154:Mutation; D012333:RNA, Messenger / Q000172:deficiency / Q000235:genetics*; D013789:Thalassemia / Q000235:genetics*
D003062:Codon; D012333:RNA, Messenger; D003596:Cytosine; D005914:Globins; D004262:DNA Restriction Enzymes