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在先天性甲状腺功能低下症中对TUBB1变异的遗传和功能分析

Fang Wang¹, Chunhui Sun², Yangang Wang¹

¹Department of Endocrinology, The Affiliated Hospital of Qingdao University, Qingdao, China.

Endokrynologia Polska

|March 12, 2025

概括

TUBB1基因的突变与由甲状腺失调 (TD) 引起的先天性甲状腺功能低下症 (CH) 有关. 这种c.952C>T变异会损害甲状腺细胞基因表达和增殖,证实了TUBB1的存在.

科学领域:

遗传学是一个遗传学.
内分泌学在内分泌学.
分子生物学分子生物学

背景情况:

先天性甲状腺功能低下症 (CH) 是一种常见的新生儿疾病,通常由甲状腺功能障碍 (TD) 引起.
遗传因素与TD有关,但引起的基因通常是未知的.
TUBB1之前被确定为TD的候选基因,需要进一步调查.

研究的目的:

在中国队列中验证TUBB1突变和TD之间的关联.
在细胞水平上研究TUBB1 c.952C>T变异的致病机制.

主要方法:

实时聚合酶连锁反应 (RT-PCR) 和西部污染被用来评估基因和蛋白质表达.
细胞计数套件8 (CCK8) 和伤口愈合试验评估了细胞增殖和迁移.
对289名患有TD的中国患者进行了基因分析.

主要成果:

这种TUBB1 c.952C>T突变减少了TUBB1的mRNA和蛋白质表达.
这种突变显著抑制了甲状腺细胞的增殖.
这种c.952C>T突变对细胞迁移有抑制作用,但在统计学上并不显著.
在患者中没有发现致病性TUBB1变体.

结论:

TUBB1变异与TD的遗传易感性有关,但不是DH.
在1.38%的中国TD患者队列中,发现了一种致病性TUBB1变体.
TUBB1中的c.952C>T突变影响甲状腺细胞基因表达和增殖.

关键词:

在 TUBB1 基因上.遗传性甲状腺功能低下症是先天的基因表达的基因表达方式病原性突变是一种病原性突变.它们的扩散和扩散.

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