| 魏云浩 王凤军△ 刘连新 姜洪池 孙静.Gs蛋白alpha亚基与毒性多结节性甲状腺肿自主功能性的研究[J].,2016,16(1):67-71 |
| Gs蛋白alpha亚基与毒性多结节性甲状腺肿自主功能性的研究 |
| Relationship between Gene Mutation in Gs-alpha and Autonomous Function ofToxic Multinodular Goiter |
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| DOI： |
| 中文关键词: 基因突变 自主功能性 G蛋白 |
| 英文关键词: Gene mutation Autonomous function G protein |
| 基金项目:国家自然科学基金项目（30571615） |
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| 摘要点击次数: 719 |
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| 中文摘要: |
| 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Gs琢基因突变情况，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Gs琢基因突变。结论：TMG 患者Gsalpha基因突变可导致Gs琢/TSHR/cAMP 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。 |
| 英文摘要: |
| Objective:To detect the gene mutation in Gs-alphaand the relationship with autonomous function of TMG (toxic multinodular
goiter).Methods:Nodular specimens were obtained from16 cases diagnosed as TMG（toxicmultinodular goiter）, with normal thyroid
specimens adjacent to the nodules as control. Cell behaviors were observed by using both optical microscope and electron microscope.
Genomic DNAs were isolated from thyroid nodules and normul tissues of 16 TMGs. After amplifying the related regions, the precise localization
of the mutations was identified by automatic DNA sequence analysis.Results:Thyroid follicular cell were observed with various
size, hyperplasia of columnar follicle epithelial cell, expansion of rough endoplasmic reticulum, developed Golgi apparatus and abundance
of ribosome. Exon 10 mutations of Gs-alpha were identified in 5 of 16 TMGs. Two samples had deletion mutation in the first basic
group of lysine codon（AAG）which expressed abnormally. Three samples had deletion mutation in the first basic group of aspartic acid
codon （AAC）which expressed abnormally.Conclusion:The Gs-alpha mutations play a certain role in abnormal expression of Gs-alpha/
TSHR/cAMP signal path which result in autonomous function of TMG cells. |
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