A somatic point mutation in a putative ligand binding domain of the TSH receptor in a patient with autoimmune hyperthyroidism.
A somatic point mutation in a putative ligand binding domain of the TSH receptor in a patient with autoimmune hyperthyroidism.
复制标题
自身免疫性甲状腺功能亢进症患者 TSH 受体推定配体结合域的体细胞点突变。
DOI：
--
复制
发表时间：
1991
影响因子：
5.8
通讯作者：
B. Westermark
中科院分区：
文献类型：
--
作者：
N. Heldin;B. Gustavsson;K. Westermark;B. Westermark
对1例自身免疫性甲状腺功能亢进症患者甲状腺RNA合成的TSH受体cDNA的PCR片段进行核苷酸序列分析，发现密码子36的第一位有两个不同的序列。在其中一个序列中，C替换为G，导致预测肽中的D36-H替换。这两种变体也在甲状腺组织的基因组DNA中发现。然而，在代表所有三个不同胚层的其他组织中只发现了种系序列。因此，新序列可能代表甲状腺组织中的体细胞突变，可能与患者甲状腺疾病的发病机制相关。
Nucleotide sequence analysis of PCR fragments of TSH receptor cDNA synthesized from thyroid RNA of a patient with autoimmune hyperthyroidism, revealed two different sequences in the first position of codon 36. In one of the sequences, there was a C for G substitution leading to the D36----H substitution in the predicted peptide. Both variants were also found in genomic DNA of thyroid tissue. However, only the germ line sequence was found in other tissues representing all three different germ layers. The novel sequence is therefore likely to represent a somatic mutation in the thyroid tissue, of possible relevance for the pathogenesis of the patient's thyroid disorder.
人促甲状腺素受体中的插入对于高亲和力激素结合至关重要。
DOI：
10.1126/science.2169649
发表时间：
1990
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
Wadsworth,HL;Chazenbalk,GD;Nagayama,Y;Russo,D;Rapoport,B
通讯作者：
Rapoport,B