title: Japanese beta zero-thalassemia: molecular characterization of a novel insertion causing a stop codon.
abstract: During a physical checkup, a 42-year-old Japanese man with liver dysfunction was diagnosed as having beta-thalassemia. Using molecular biological techniques including PCR, we investigated the chemical basis of the hematological disorder. We found that a frameshift attributable to the insertion of a thymidine into or following the TTT sequence of codon 42 transformed codon 43 (GAG) into a stop codon (TGA). We believe that this mutation has not been previously reported.
authors.affiliation: Department of Health Control in Internal Medicine, Nagoya Ekisaikai Hospital, Nagoya City, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Oshima
authors.forename: T
authors.initials: T
authors.lastname: Harano
authors.forename: K
authors.initials: K
authors.lastname: Harano
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D003062:Codon / Q000235:genetics*; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D005914:Globins / Q000235:genetics*; D006801:Humans; D007564:Japan; D008297:Male; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D012333:RNA, Messenger / Q000235:genetics; D013728:Terminator Regions, Genetic; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D003062:Codon; D018076:DNA, Complementary; D012333:RNA, Messenger; D005914:Globins