甲状腺球蛋白基因突变与先天性甲状腺功能减退

Thyroglobniin gene mutation and congenital hypothyroidism

先天性甲状腺功能减退症（CH）是最常见的新生儿内分泌疾病之一，主要表现为甲状腺激素合成不足、智能落后、生长发育迟缓等。甲状腺激素的合成依赖于甲状腺球蛋白（TG）的正常分子构象，TG基因突变可导致CH伴甲状腺肿大。目前在CH中已发现55种TG基因突变类型，包括错义突变、无义突变、剪接位点突变、核苷酸缺失及插入。这些TG基因突变使TG分子构象改变，影响其正常折叠、成熟和转运。随着TG基因突变类型的增多，其基因型-表型关系也越来越复杂。

Congenital hypothyroidism （CH） is one of the most common neonatal endocrine disorders. It is characterized by low serum thyroid hormones, mental retardation, growth failure. Biosynthesis of thyroid hormone requires a normal structure of thyroglobulin （TG）. TG gene mutations can result in CH with goiter. Up to now,55 mutations of human TG gene have been identified including missense mutation, nonsense mutation, splice site mutation, nucleotide deletion and insertion. These mutations alter the normal structure of TG, consequently influence its folding, maturity, and transportation. The more TG gene mutations that exist, the more complicated the relationships of genotype and phenotype become.