title: [Thyroglobulin (Tg) gene and familial Tg synthesis defect].
abstract: The thyroglobulin (Tg) gene is a 300-kilobase (kb) single copy gene, containing at least 42 exons, mapped in man to chromosome 8 (8q24) and codes for a glycoprotein with a molecular weight 660,000, which functions as a matrix for the thyroid hormone (T4, T3) and iodothyronine synthesis. Recent progress in genetic technology enables us to study a family case of hereditary goiter with hypothyroidism due to Tg synthesis defect. RT-PCR and subsequent sequencing of the Tg gene revealed a C to G conversion at -3 position of the acceptor splice site in intron 3. This splice site mutation resulted in exon. 4-deleted (major) and exon 3-5-deleted (minor) mRNAs in the goiter thyroid. This defect in this patient indicates the importance of the tyrosine No. 130, coded within the exon 4, in the thyroid hormone formation.
authors.affiliation: Department of clinical pathology/laboratory Medicine, Dokkyo University School of Medicine.
authors.forename: T
authors.initials: T
authors.lastname: Ieiri
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D005260:Female; D006042:Goiter / Q000209:etiology / Q000235:genetics; D006801:Humans; D007037:Hypothyroidism / Q000209:etiology / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger; D013954:Thyroglobulin / Q000737:chemistry / Q000172:deficiency / Q000235:genetics*; D014443:Tyrosine / Q000235:genetics
chemical_list: D012333:RNA, Messenger; D014443:Tyrosine; D013954:Thyroglobulin