Mutation Of Thyroglobulin Gene In Children With Congenital Hypothyroidism With Goiter

Objective To identify thyroglobulin(TG)gene mutation of congenital hypothyroidism with goiter patients in Qingdao,in order to provide full evidence for gene diagnosis of congenital hypothyroidism.Methods Thyroglobulin gene mutation was investigated by polymerase chain reaction(PCR)and denaturing high-performance liquid chromatography(DHPLC)in groups of congenital hypothyroidism and goiter(n=10).All patients with congenital hypothyroidism and goiter were diagnosed in neonatal screening center of Qingdao.None of them have family medical histories of thyroid gland disease.After genomic DNA was obtained from their peripheral blood,all48exons of TG gene were amplified through PCR.Then PCR fragments were analyzed by DHPLC and abnormal fragments were directly sequenced to identify TG gene mutation or single nucleotide polymorphism.We used DNAMAN and Bioedit software to analyze the type and characteristic of TG gene mutation,aim to investigate the mechanism of congenital hypothyroidism with goiter caused by TG gene mutations.Results One compound heterozygous TG gene mutations(c.2687G>A/c.7006C>T,p.R877Q/p.R2317X)were identified.Two single nucleotide polymorphisms(c2182T>G,c2334T>C)of TG gene were identified as well.Conclusion We identify one compound heterozygous TG gene mutations and two single nucleotide polymorphisms in10subjects which indicates that the incidence of TG gene mutation is very low in congenital hypothyroidism with goiter patients from Qingdao.