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目的:检测TMG(毒性多结节性甲状腺肿:Toxic Multinodular Goiter)患者甲状腺细胞中的Gsα基因突变情况,讨论其与TMG细胞自主功能性的关系。方法:将16例TMG患者手术切除标本中甲状腺结节组织及其作为对照组的结节周围正常的甲状腺组织,分别于光镜电镜下观察细胞行为,提取DNA,对目的基因片段进行扩增聚合酶链反应(PCR)反应及DNA测序分析。结果:于光镜及电镜下可观察到TMG细胞的滤泡大小不等,滤泡上皮呈高柱状,增生明显,粗面内质网高度扩张,高尔基体发达,核糖体丰富,呈高功能状态。16例TMG标本中,5例发现第10外显子点突变,其中:2例为第274位的赖氨酸密码子AAG的第一个碱基A的缺失,使对应赖氨酸表达异常,3例为第279位的天冬酰胺的密码子AAC的第一个碱基A的缺失,对应天冬氨酸表达异常。对照组未发现Gsα基因突变。结论:TMG患者Gsα基因突变可导致Gsα/TSHR/c AMP信号通路异常,使细胞产生自主高功能状态,是导致TMG自主功能性发生的重要因素。
Objective: To detect the mutation of Gsα gene in thyrocytes of patients with TMG (Toxic Multinodular Goiter) and discuss its relationship with the autonomic function of TMG cells. Methods: Thyroid nodules and normal thyroid tissue around the nodules were obtained from 16 cases of TMG. The cell behavior was observed under light microscope and DNA was extracted. The target gene fragments were amplified and polymerized Enzyme-linked reaction (PCR) reaction and DNA sequencing analysis. Results: The sizes of follicles in TMG cells were observed under light microscope and electron microscope. The follicular epithelium was highly columnar with obvious hyperplasia. The rough endoplasmic reticulum was highly expanded, the Golgi body was well developed and the ribosome was abundant. . In 16 cases of TMG specimens, point 10 mutations were found in 5 cases, of which 2 cases were the deletion of the first base A of lysine codon AAG at position 274, and the corresponding lysine expression was abnormal, The deletion of the first base A of the codon AAC of Asparagine at position 279 in 3 cases corresponded to the abnormal expression of aspartate. The control group found no Gsα gene mutation. CONCLUSION: Mutations of Gsα gene in TMG patients can result in aberrant Gsα / TSHR / c AMP signaling pathway and make cells produce autonomic high status, which is an important factor leading to TMG autonomic function.