兰州大学机构库 >学院待认领
甲状腺激素抵抗综合征一个家系调查及基因筛查
Alternative TitleA familyline investigation of thyroid hormone resistance and genetic screening
王静
Thesis Advisor陈慧
2012-05-15
Degree Grantor兰州大学
Place of Conferral兰州
Degree Name硕士
Keyword甲状腺激素抵抗 甲状腺激素β受体 家系调查 基因筛查
Abstract目的 对一甲状腺激素抵抗综合征( resistance to hyroid hormone syndrome, RTH)患者进行家系调查,并对该家系进行甲状腺激素β受体(thyroid hormone receptor beta ,TRβ)基因常见突变位点的筛查,结合其临床表现、实验室检查、诊断、鉴别诊断与治疗等,从分子水平探讨本病的发病机制。 方法 1.对先证者及其家系成员进行病史采集、体格检查、相关实验室检查,并对先证者进行治疗及疗效评估;2.抽取先证者及其家系成员外周血,提取基因组DNA,应用聚合酶链反应(polymerase chain reaction,PCR),通过直接测序,确定TRβ基因7~10外显子序列。 结果 1.先证者甲状腺弥漫性肿大,双耳极重度感音神经性听力缺失,多次甲功结果示:T3、T4、TSH增高,垂体及周围组织均对T3存在抵抗;2.先证者父亲甲状腺肿大,甲功示:FT3、TSH增高;3.该家系TRβ基因7~10外显子的测序结果与Gen-Bank提供的序列(NC_ 000 00 3.11 )进行BLAST对比,未发现替换、插入、缺失等任何形式的基因突变。 结论 1.先证者及其父亲符合“RTH”的诊断;2.该家系可能存在TRβ其他外显子或内含子的突变,也可能与其它辅助因子、细胞膜转运体或脱碘酶的缺乏或功能异常等受体后因素有关。
Other AbstractObjective:The purpose of this study is to investigate a family of resistance to thyroid hormone (RTH) and to detect mutations of thyroid hormone receptor beta (TRβ), combined with its cause,clinical manifestations, diagnosis,differential diagnosis and treatmens, etc, to discuss the pathogenesis of RTH at the molecular level. Methods:Collect the clinical data of the propositus, and carry out related laboratory tests and curative effect evaluation. Results:The propositus and her father presented with goiter and their serum T3, T4 and TSH were elevated. T3 inhibit test of the propositus showed that pituitary and peripheral tissues were all resistance to T3. Conclusion:The propositus and her father fit the diagnosis of RTH.There may be mutations in other exons or introne. Studies in recent years show that RTH can also caused by the deficiency or disfunction of cofactor, cell membrane transporter and iodothyronine deiodinase
URL查看原文
Language中文
Document Type学位论文
Identifierhttps://ir.lzu.edu.cn/handle/262010/223245
Collection学院待认领
Affiliation临床医学院
Recommended Citation
GB/T 7714
王静. 甲状腺激素抵抗综合征一个家系调查及基因筛查[D]. 兰州. 兰州大学,2012.
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