精品文档---下载后可任意编辑先天性甲状腺功能减低症患者 PAX8 基因突变筛查及致病机理讨论的开题报告摘要：先天性甲状腺功能减低症（congenital hypothyroidism，CH）是一种常见的遗传性疾病，其中一部分患者的病因是由于 PAX8 基因突变所致。本讨论旨在对 CH 患者进行 PAX8 基因突变筛查，并对其致病机理进行讨论。利用高通量测序技术对一批 CH 患者进行基因突变筛查，同时对突变结果进行分析。建立大鼠细胞模型，通过 Western blot、实时荧光定量 PCR 等技术检测 PAX8 突变对甲状腺素合成相关基因的表达影响，并通过荧光显微镜观察 PAX8 在细胞内的分布情况。估计本讨论将筛查到一定数量的 PAX8 基因突变，并通过细胞实验讨论发现突变对甲状腺素合成过程中相关基因的影响。通过讨论 PAX8在细胞内的分布情况，探究其可能的致病机制。这些实验结果有助于进一步深化了解 CH 的病因学机制，为相关临床诊断和治疗提供科学依据。关键字：先天性甲状腺功能减低症；PAX8 基因突变；甲状腺素合成；机制讨论Abstract：Congenital hypothyroidism (CH) is a common genetic disease, and the pathogenesis of a part of CH patients is due to PAX8 gene mutation. This study aims to screen for PAX8 gene mutations in CH patients and investigate the pathogenesis of the disease.High-throughput sequencing technology was used to screen for gene mutations in a group of CH patients, and the mutation results were analyzed. A rat cell model was established to detect the effect of PAX8 mutation on the expression of thyroid hormone synthesis-related genes using techniques such as Western blot and real-time fluorescence quantitative PCR. The distribution of PAX8 in the cells was observed using fluorescence microscopy.It is expected that this study will screen for a certain number of PAX8 gene mutations, and through cell experiments, it will be found that mutations have an impact on 精品文档---下载后可任意编辑the relevant genes of thyroid hormone synthesis. By studying the distribution of PAX8 in cells, the possible pathogenic mechanism will be explored. These experimental results will help to further understand the pathogenesis of CH and provide a scientific basis for clinical diagnosis and treatment.Keywords: congenital hypothyroidism; PAX8 gene mutation; thyroid hormone synthesis; mechanistic research.
