Ieiri T
Department of clinical pathology/laboratory Medicine, Dokkyo University School of Medicine.
Nihon Rinsho. 1994 Apr;52(4):869-74.
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.
甲状腺球蛋白（Tg）基因是一个300千碱基（kb）的单拷贝基因，至少包含42个外显子，在人类中定位于8号染色体（8q24），编码一种分子量为660,000的糖蛋白，该糖蛋白作为甲状腺激素（T4、T3）和碘甲状腺原氨酸合成的基质。遗传技术的最新进展使我们能够研究一例因Tg合成缺陷导致的遗传性甲状腺肿伴甲状腺功能减退的家族病例。对Tg基因进行逆转录聚合酶链反应（RT-PCR）及后续测序发现，内含子3中受体剪接位点的-3位发生了C到G的转换。这种剪接位点突变导致甲状腺肿甲状腺中出现外显子4缺失（主要）和外显子3-5缺失（次要）的信使核糖核酸（mRNA）。该患者的这一缺陷表明外显子4中编码的第130位酪氨酸在甲状腺激素形成中的重要性。
