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完整後設資料紀錄
DC 欄位 | 值 | 語言 |
---|---|---|
dc.contributor.advisor | 蔡克嵩(Ke-Sung Tsai),楊偉勛(Wei-Shiung Yang) | |
dc.contributor.author | Fu-Jen Chen | en |
dc.contributor.author | 陳甫仁 | zh_TW |
dc.date.accessioned | 2021-06-08T07:30:27Z | - |
dc.date.copyright | 2008-08-13 | |
dc.date.issued | 2008 | |
dc.date.submitted | 2008-06-27 | |
dc.identifier.citation | 1. Pannett, A. A. J & Thakkler, R. V. (1999). Multiple endocrine neoplaisa type 1. Endocrine- related Cancer, 6, 449-473.
2. Chandrasekharrappa SC, Guru SC, Manickam P, Olufemi SE et al. ( 1997). Positional coloning of the gene for multiple endocrine neoplasia type 1. Science, 276, 404-407 3. Lemmens, I., Van De Ven, W. J., Kas. K., et al (1997) Identification of the multiple endocrine neoplaisa type 1 (MEN1) gene, Human Molecular Genetics, 6, 1177-1183. 4. Argarwal, S.K., Kester, M. B. et al. (1997). Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. Human Molecular Genetics, 6, 1169-75 5. Charles F.C, Hans H.L, Keith F.W. (2002). Hypercalcemia, The Washington Manual of Medical Therapeutics, 441-445 6. Charles F.C, Hans H.L, Keith F.W. (2002). Gastrinoma , The Washington Manual of Medical Therapeutics, 315 7. Charles F.C, Hans H.L, Keith F.W. (2002). Hypoglycemia, The Washington Manual of Medical Therapeutics, 416 8. Charles F.C, Hans H.L, Keith F.W. (2002). Acromegaly,The Washington Manual of Medical Therapeutics, 430 9. Natalia S, Pellegata, Leticia Q.M, et al (2006). Germ-line mutations in p27kip1 cause a multiple endocrine neoplasia syndrome in rats and humans, Proceeding National Academy of Science of the USA, 103(42), 15558-15563. 10. Rizzoli R, Green J, Marx S.J, et al. (1985). parimary hyperparathyroidism of familial multiple endocrine neoplasia type1. Am J Med, 78, 467. 11. Chandrasekharappa S.C, Guru S.C, Manickam P. (1997, Apr. ). Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science, 276(5311), 404-7. 12. 多發性內分泌腫瘤第一型的突變。上網日期: 2008年4月2日, 檢自: http://uwcmml1s.uwcm.ac.uk/uwcm/mg/search/120173.html 13. Larsson C, Skogseid B, Oberg K et al. (1988). Multiple endocrine neoplasia type 1gene maps to chromosome 11 and is lost in insulinoma. Nature, 332, 85-87. 14.Cetain F, Pardi E, Cian ferotti L et al. (1999). A new mutation of MEN1 gene in an Italian kindred with multiple endocrine neoplasia type 1. Eur J Endocrinol, 140, 429-433 15. Abe T, Yoshimoto K, Taniyama M, et al (2000). An unusal kindred of the multiple endocrine neoplasia type 1 (MEN1) in Janpanese. J Clin Endocrinol Metab, 85, 1327-1330 16. Bergman L, Teh B, Cardianl J, et al. (2000). Identification of MEN1 gene mutations in families with MEN1 and related disorders. Br J Cancer, 83, 1009-1014 17. Guru, S. C., Goldsmith, P. K.., Burns, et al (1998) Menin, the product of MEN1 gene, is a nuclear protein. Proceeding of National Academy of Science of United States of America, 95, 1630-1634. 18. Chandrasekharappa, S. C., Guru, S. C., Manickam, et al. (1997). Positional cloning of the gene for multiple endocrine neoplasia type 1. Science, 276, 404-407. 19. Agarwal SK, Guru SC, Heppner C et al. (1999). Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription. Cell, 96, 143-152. 20. Ohkura N, Kishi M, Tsukada T, et al. (2001). Menin, a gene product responsible for multiple endocrine neoplasia type 1, interacts with the putative tumor metastasis suppressor nm23. Biochem Biophys Res Commun, 282, 1206-1210. 21. Kaji H,Canaff L, Lebrun JJ, et al. (2001). Inactivation of menin, a Smad3 interacting protein, blocks transforming growth factor type βsignaling. Pro Nati Acad Sci USA, 98, 3837-3842. 22. Pannett AA, Thankker RV. (1999). Multiple endocrine neoplasia type 1. Endocrine Related Cancer, 6, 449-473 23. Brandi ML; Gagel RF; Angeli A et al. (2001, Dec.). Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab, 86(12):5658-71. 24. Hai, N., Aoki, N., Matsuda, A., Mori, T. & Kosugi, S. (1999) Germline MEN1 mutations in sixteen Japanese families with multiple endocrine neoplasia type 1. European Journal of Endocrinology, 141, 475-80. 25. Tso, A. W., Rong, R., Lo, C. Y., Tan, K. C., et al (2003) Multiple endocrine neoplasia type 1 (MEN1): genetic and medical analysis in the southern Chinese. Clinical Endocrinology, 59, 129-35. 26. Poncin, J., Abstract, R., Velkeniers, B., Bonduelle et al (1999) Mutation analysis of MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related disease. Human Mutation, 13, 54-60. 27. Cavaco, B. M., Domingues, R., Bacelar, M.C., et al (2002) Mutational analysis of Portuguese families with multiple endocrine neoplasia type 1 reveals large germline deletions. Clinical Endocrinology, 56, 465-473. 28. 史明(1980)。台灣人400年史。臺北:蓬島文化公司。 29. T. S. Jap, C. Y. Chiu, G. S. Won, Y. C. Wu, H. S. Chen. (2005). Novel mutation in the MEN1 gene in subjects with multiple endocrine neoplasia-1. Clinical Endocrinology, 62, 336-42. 30. Lloyd R.V, Erickson L.A, Jin L. (1999). p27kip1: a multifunctional cyclin-dependent kinase inhibitor with prognostic significance in human cancers. Am J Pathol. 154(2), 313-23. 31. Baens, M., Aerssens, J., Van Zand, K., Van den Berghe, H., Marynen, P. (1995). Isolation and regional assignment of human chromosome 12p cDNAs. Genomics, 29, 44-52, . 32. Maneul C.L. & Rajesh V.T (2008). Multiple endocrine neoplasia type1 (MEN1) : analysis of 1336 mutations reported in the first decade following identification of the gene. Human Mutation, 29(1), 22-32. | |
dc.identifier.uri | http://tdr.lib.ntu.edu.tw/jspui/handle/123456789/26882 | - |
dc.description.abstract | 主旨: 多發性內分泌腫瘤第一型是一個內分泌方面的腫瘤, 包括有副甲狀腺瘤, 腸胰腺瘤, 腦下腺瘤等內分泌組織的腫瘤。而這個腫瘤在遺傳學上屬於體染色體顯性遺傳。並且已經知道其遺傳被MEN1基因所控制, MEN1基因位於染色體11q13的位置。最近有一篇研究是以台灣地區為範圍, 對疑似多發性內分泌腫瘤第一型患者的MEN1基因加以定序, 以決定是否為此基因突變所致。
設計: 取得台灣地區一位疑似多發性內分泌腫瘤第一型病患的DNA, 她在臨床上表現出副甲狀腺瘤, 以及腦下垂體瘤。我們對MEN1基因基予以定序, 再加上病人所表現的臨床症狀以及家族史, 和之前研究台灣地區多發性內分泌腫瘤第一型的結果做比較。 結果: 我們檢視exon2~10, 並沒有發現哪一個exon有突變發生, 而環顧病人的臨床症狀和家族史, 本案例之病人屬於non-MEN1 gene mutation這一類。 另外特別之處, 乃是exon9在第70~72bp, 兩股遺傳密碼分別為GAT;GAC, 因為轉譯之後都是表現asparate, 在胜肽的層次上不算是突變。而考慮在DNA的層次上, 應該算是多形性變異 (polymorphism)。 結論: 雖然本研究結果為陰性反應, 但依據文獻探討指出: 多發性內分泌腫瘤第一型病患其MEN1基因檢測高達25%呈現陰性反應。此一類病人歸於non-MEN1 gene mutation, 基於和類多發性內分泌腫瘤 (MEN-like syndrome ; MENX) 有著相似的表現型 ( phenotype) , 且類多發性內分泌腫瘤 (MEN-like syndrome ; MENX) 的致病機轉已被許多文獻所揭露, 而這是我們接下來所要努力的方向。 | zh_TW |
dc.description.abstract | Abstract
Objective: Multiple Endocrine Neoplasia Type 1 (MEN1) is a syndrome of endocrine tumor, including parathyroid tumor, entero-pancreatic tumor, and pituitary endocrine tumor. It’s inheritance is autosomal dominant and controlled by the MEN1 gene which was located at chromosome 11q13. Recently, there was one study on the genes of MEN1 patients in Taiwan. This study aimed to exam the DNA sequence of MEN-1 gene in one patient to investigate whether mutations in MEN-1 is responsible for the phenotypes. Design: A patient we chosed had parathyroid tumor and pituitary tumor. We examined the sequence of MEN-1 gene by genomic DNA sequencing. The patient’s clinical symptoms, signs and her pedigree should be also taken into consideration. These results were compared with the previous finding about MEN1 in Taiwan. Results: No mutation was found in exons2~10. Nonetheless, at the70th ~ 72th base pair, the exon9 was found with two inherited codons—GAT and GAC respectively. Both codons encode amino-acid: aspirate. This is not considered a mutation. Moreover, at the level of DNA, we may refer it as polymorphism. Conclusion: Although the research result is negative, according to literature review, there were 25% of gene test of the MEN1 patients found negative. The group of non-MEN1 gene mutation with gene test negative is maybe attributed to MEN-like syndrome (MENX). The mechanism of MEN-like syndrome (MENX) was understood gradually. This will be one direction for futher investigation. | en |
dc.description.provenance | Made available in DSpace on 2021-06-08T07:30:27Z (GMT). No. of bitstreams: 1 ntu-97-P95448003-1.pdf: 1133217 bytes, checksum: 01b7594c70ae1afd22f0f19b4fa9aca9 (MD5) Previous issue date: 2008 | en |
dc.description.tableofcontents | 口試委員審定書 i
中文摘要 ii 英文摘要 iii 第一章 引言 1.1多發性內分泌腫瘤第一型 (MEN1) 簡介及分類 1 1.2多發性內分泌腫瘤第一型之表現型 (phenotype) 及臨床表徵 1 1.3 MEN1的細胞生物及分子生物學 2 1.4流行病學 4 第二章 病例及方法 2.1病人的病史 5 2.2 臨床調查 5 2.3 病人家族史方面 7 2.4 MEN1基因分析方面 8 2.5 突變如何確認 9 第三章結果 3.1 MEN-1基因序列檢定結果 9 第四章討論 4.1 基因篩檢呈現陰性結果 10 4.2 沒有家族史 11 4.3 臨床症狀相符 12 4.4 MEN1的好發年紀 12 4.5 hot spot 12 參考文獻 14 表目錄 <附表一> 各個MEN1與其所好發腫瘤 2 <附表二> 不同的腫瘤所產生的內分泌素及其百分比 3 <附表三> 副甲狀腺機能臨床調查 6 <附表四> 腦下垂體分泌激素臨床調查 7 <附表五> DNA的備製 9 圖目錄 <附圖一> MEN1分類 18 <附圖二> Double Hit Hypothesis 18 <附圖三>副甲狀腺核子掃描 (Tc-99m MIBI for parathyroid) 19 <附圖四>Pedigree 19 <附圖五>MEN1基因檢測流程 20 <附圖六> MEN1 gene各exon的forward & reverse primer及 PCR程式和溫度設定 20 <附圖七>PCR產物電泳 21 附錄 <附錄一> exon2 22 <附錄二> Exon3 25 <附錄三> Exon4 27 <附錄四> Exon5,6 29 <附錄五> Exon7 32 <附錄六> Exon8 34 <附錄七> Exon9 36 <附錄八> Exon10 38 | |
dc.language.iso | zh-TW | |
dc.title | 多發性內分泌腫瘤第一型基因診斷 | zh_TW |
dc.title | Genetic Diagnosis of Multiple Endocrine Neoplasia Type-1 (MEN-1) | en |
dc.type | Thesis | |
dc.date.schoolyear | 96-2 | |
dc.description.degree | 碩士 | |
dc.contributor.advisor-orcid | ,楊偉勛(wsyang@ntu.edu.tw) | |
dc.contributor.oralexamcommittee | 李銘仁(Ming-Jen Lee) | |
dc.subject.keyword | 多發性內分泌腫瘤第一型,副甲狀腺瘤,腸胰腺瘤,腦下腺瘤,MEN1基因,染色體11q13, | zh_TW |
dc.subject.keyword | Multiple Endocrine Neoplasia Type 1 (MEN1),parathyroid tumor,entero-pancreatic tumor,and pituitary endocrine tumor,MEN1 gene,chromosome 11q13, | en |
dc.relation.page | 40 | |
dc.rights.note | 未授權 | |
dc.date.accepted | 2008-06-27 | |
dc.contributor.author-college | 醫學院 | zh_TW |
dc.contributor.author-dept | 分子醫學研究所 | zh_TW |
顯示於系所單位: | 分子醫學研究所 |
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