請用此 Handle URI 來引用此文件:
http://tdr.lib.ntu.edu.tw/jspui/handle/123456789/46234
完整後設資料紀錄
DC 欄位 | 值 | 語言 |
---|---|---|
dc.contributor.advisor | 楊偉勛(Wei-Shiung Yang) | |
dc.contributor.author | Min-hua Liao | en |
dc.contributor.author | 廖敏華 | zh_TW |
dc.date.accessioned | 2021-06-15T04:59:15Z | - |
dc.date.available | 2014-09-09 | |
dc.date.copyright | 2010-09-09 | |
dc.date.issued | 2010 | |
dc.date.submitted | 2010-07-29 | |
dc.identifier.citation | 1. 行政院衛生署. 98年度行政院衛生署新聞稿2010.
2. Executive summary: Standards of medical care in diabetes--2010. Diabetes Care. Jan 2010;33 Suppl 1:S4-10. 3. Sabin MA, Cameron FJ, Werther GA. Type 1 diabetes--still the commonest form of diabetes in children. Aust Fam Physician. Sep 2009;38(9):695-697. 4. Han JC, Lawlor DA, Kimm SY. Childhood obesity. Lancet. May 15 2010;375(9727):1737-1748. 5. Sellers EA, Moore K, Dean HJ. Clinical management of type 2 diabetes in indigenous youth. Pediatr Clin North Am. Dec 2009;56(6):1441-1459. 6. Phillips J, Phillips PJ. Children get type 2 diabetes too. Aust Fam Physician. Sep 2009;38(9):699-703. 7. Design of a family-based lifestyle intervention for youth with type 2 diabetes: the TODAY study. Int J Obes (Lond). Feb 2010;34(2):217-226. 8. Tsai FJ, Yang CF, Chen CC, et al. A genome-wide association study identifies susceptibility variants for type 2 diabetes in Han Chinese. PLoS Genet. 2010;6(2):e1000847. 9. Alwan N, Tuffnell DJ, West J. Treatments for gestational diabetes. Cochrane Database Syst Rev. 2009(3):CD003395. 10. Chittleborough CR, Baldock KL, Taylor AW, et al. Long-term follow-up of women with gestational diabetes mellitus: The South Australian Gestational Diabetes Mellitus Recall Register. Aust N Z J Obstet Gynaecol. Apr 2010;50(2):127-131. 11. Kadowaki T, Kadowaki H, Mori Y, et al. A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA. N Engl J Med. Apr 7 1994;330(14):962-968. 12. Frias JL, Rosenbloom AL. The genetics of diabetes. Metabolism. Feb 1973;22(2):355-358. 13. Todd JA. Etiology of type 1 diabetes. Immunity. Apr 23 2010;32(4):457-467. 14. Chen PL, Yang WS. Human genetics of diabetes mellitus in Taiwan. Front Biosci. 2009;14:4535-4545. 15. Mehers KL, Gillespie KM. The genetic basis for type 1 diabetes. Br Med Bull. 2008;88(1):115-129. 16. Altshuler D, Hirschhorn JN, Klannemark M, et al. The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nat Genet. Sep 2000;26(1):76-80. 17. Craighead JE. Current views on the etiology of insulin-dependent diabetes mellitus. N Engl J Med. Dec 28 1978;299(26):1439-1445. 18. Hussain A, Claussen B, Ramachandran A, Williams R. Prevention of type 2 diabetes: a review. Diabetes Res Clin Pract. Jun 2007;76(3):317-326. 19. Ellard S, Bellanne-Chantelot C, Hattersley AT. Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. Diabetologia. Apr 2008;51(4):546-553. 20. Nyunt O, Wu JY, McGown IN, et al. Investigating maturity onset diabetes of the young. Clin Biochem Rev. May 2009;30(2):67-74. 21. Tattersall RB. Mild familial diabetes with dominant inheritance. Q J Med. Apr 1974;43(170):339-357. 22. Tattersall RB, Fajans SS. A difference between the inheritance of classical juvenile-onset and maturity-onset type diabetes of young people. Diabetes. Jan 1975;24(1):44-53. 23. Froguel P, Vaxillaire M, Sun F, et al. Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus. Nature. Mar 12 1992;356(6365):162-164. 24. Katagiri H, Asano T, Ishihara H, et al. Nonsense mutation of glucokinase gene in late-onset non-insulin-dependent diabetes mellitus. Lancet. Nov 28 1992;340(8831):1316-1317. 25. Vionnet N, Stoffel M, Takeda J, et al. Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus. Nature. Apr 23 1992;356(6371):721-722. 26. Sladek FM, Zhong WM, Lai E, Darnell JE, Jr. Liver-enriched transcription factor HNF-4 is a novel member of the steroid hormone receptor superfamily. Genes Dev. Dec 1990;4(12B):2353-2365. 27. Weissglas-Volkov D, Huertas-Vazquez A, Suviolahti E, et al. Common hepatic nuclear factor-4alpha variants are associated with high serum lipid levels and the metabolic syndrome. Diabetes. Jul 2006;55(7):1970-1977. 28. Fajans SS. Maturity-onset diabetes of the young (MODY). Diabetes Metab Rev. Nov 1989;5(7):579-606. 29. Bell GI, Xiang KS, Newman MV, et al. Gene for non-insulin-dependent diabetes mellitus (maturity-onset diabetes of the young subtype) is linked to DNA polymorphism on human chromosome 20q. Proc Natl Acad Sci U S A. Feb 15 1991;88(4):1484-1488. 30. Bowden DW, Akots G, Rothschild CB, et al. Linkage analysis of maturity-onset diabetes of the young (MODY): genetic heterogeneity and nonpenetrance. Am J Hum Genet. Mar 1992;50(3):607-618. 31. Rothschild CB, Akots G, Hayworth R, et al. A genetic map of chromosome 20q12-q13.1: multiple highly polymorphic microsatellite and RFLP markers linked to the maturity-onset diabetes of the young (MODY) locus. Am J Hum Genet. Jan 1993;52(1):110-123. 32. Yamagata K, Oda N, Kaisaki PJ, et al. Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3). Nature. Dec 5 1996;384(6608):455-458. 33. Stoffel M, Duncan SA. The maturity-onset diabetes of the young (MODY1) transcription factor HNF4alpha regulates expression of genes required for glucose transport and metabolism. Proc Natl Acad Sci U S A. Nov 25 1997;94(24):13209-13214. 34. Lindner T, Gragnoli C, Furuta H, et al. Hepatic function in a family with a nonsense mutation (R154X) in the hepatocyte nuclear factor-4alpha/MODY1 gene. J Clin Invest. Sep 15 1997;100(6):1400-1405. 35. Moller AM, Dalgaard LT, Ambye L, et al. A novel Phe75fsdelT mutation in the hepatocyte nuclear factor-4alpha gene in a Danish pedigree with maturity-onset diabetes of the young. J Clin Endocrinol Metab. Jan 1999;84(1):367-369. 36. Fajans SS, Bell GI, Polonsky KS. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N Engl J Med. Sep 27 2001;345(13):971-980. 37. Barrio R, Bellanne-Chantelot C, Moreno JC, et al. Nine novel mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families. J Clin Endocrinol Metab. Jun 2002;87(6):2532-2539. 38. Johansen A, Ek J, Mortensen HB, Pedersen O, Hansen T. Half of clinically defined maturity-onset diabetes of the young patients in Denmark do not have mutations in HNF4A, GCK, and TCF1. J Clin Endocrinol Metab. Aug 2005;90(8):4607-4614. 39. Matsutani A, Janssen R, Donis-Keller H, Permutt MA. A polymorphic (CA)n repeat element maps the human glucokinase gene (GCK) to chromosome 7p. Genomics. Feb 1992;12(2):319-325. 40. Velho G, Froguel P, Clement K, et al. Primary pancreatic beta-cell secretory defect caused by mutations in glucokinase gene in kindreds of maturity onset diabetes of the young. Lancet. Aug 22 1992;340(8817):444-448. 41. Hattersley AT, Beards F, Ballantyne E, Appleton M, Harvey R, Ellard S. Mutations in the glucokinase gene of the fetus result in reduced birth weight. Nat Genet. Jul 1998;19(3):268-270. 42. Gloyn AL. Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy. Hum Mutat. Nov 2003;22(5):353-362. 43. Froguel P, Velho G, Cohen D, Passa P. Strategies for the collection of sibling-pair data for genetic studies in type 2 (non-insulin-dependent) diabetes mellitus. Diabetologia. Sep 1991;34(9):685. 44. Gidh-Jain M, Takeda J, Xu LZ, et al. Glucokinase mutations associated with non-insulin-dependent (type 2) diabetes mellitus have decreased enzymatic activity: implications for structure/function relationships. Proc Natl Acad Sci U S A. Mar 1 1993;90(5):1932-1936. 45. Vits L, Beckers D, Craen M, et al. Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients. Clin Genet. Oct 2006;70(4):355-359. 46. Rey-Campos J, Chouard T, Yaniv M, Cereghini S. vHNF1 is a homeoprotein that activates transcription and forms heterodimers with HNF1. EMBO J. Jun 1991;10(6):1445-1457. 47. Velho G, Vaxillaire M, Boccio V, Charpentier G, Froguel P. Diabetes complications in NIDDM kindreds linked to the MODY3 locus on chromosome 12q. Diabetes Care. Sep 1996;19(9):915-919. 48. Vesterhus M, Raeder H, Johansson S, Molven A, Njolstad PR. Pancreatic exocrine dysfunction in maturity-onset diabetes of the young type 3. Diabetes Care. Feb 2008;31(2):306-310. 49. Lesage S, Hani EH, Philippi A, et al. Linkage analyses of the MODY3 locus on chromosome 12q with late-onset NIDDM. Diabetes. Oct 1995;44(10):1243-1247. 50. Menzel S, Yamagata K, Trabb JB, et al. Localization of MODY3 to a 5-cM region of human chromosome 12. Diabetes. Dec 1995;44(12):1408-1413. 51. Mahtani MM, Widen E, Lehto M, et al. Mapping of a gene for type 2 diabetes associated with an insulin secretion defect by a genome scan in Finnish families. Nat Genet. Sep 1996;14(1):90-94. 52. Lehto M, Tuomi T, Mahtani MM, et al. Characterization of the MODY3 phenotype. Early-onset diabetes caused by an insulin secretion defect. J Clin Invest. Feb 15 1997;99(4):582-591. 53. Ellard S. Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young. Hum Mutat. Nov 2000;16(5):377-385. 54. Bluteau O, Jeannot E, Bioulac-Sage P, et al. Bi-allelic inactivation of TCF1 in hepatic adenomas. Nat Genet. Oct 2002;32(2):312-315. 55. Foster JH, Donohue TA, Berman MM. Familial liver-cell adenomas and diabetes mellitus. N Engl J Med. Aug 3 1978;299(5):239-241. 56. Frayling TM, Bulamn MP, Ellard S, et al. Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K. Diabetes. Apr 1997;46(4):720-725. 57. Toaima D, Nake A, Wendenburg J, et al. Identification of novel GCK and HNF1A/TCF1 mutations and polymorphisms in German families with maturity-onset diabetes of the young (MODY). Hum Mutat. May 2005;25(5):503-504. 58. Lehto M, Wipemo C, Ivarsson SA, et al. High frequency of mutations in MODY and mitochondrial genes in Scandinavian patients with familial early-onset diabetes. Diabetologia. Sep 1999;42(9):1131-1137. 59. Bjorkhaug L, Sagen JV, Thorsby P, Sovik O, Molven A, Njolstad PR. Hepatocyte nuclear factor-1 alpha gene mutations and diabetes in Norway. J Clin Endocrinol Metab. Feb 2003;88(2):920-931. 60. Pruhova S, Ek J, Lebl J, et al. Genetic epidemiology of MODY in the Czech republic: new mutations in the MODY genes HNF-4alpha, GCK and HNF-1alpha. Diabetologia. Feb 2003;46(2):291-295. 61. Gragnoli C, Cockburn BN, Chiaramonte F, et al. Early-onset Type II diabetes mellitus in Italian families due to mutations in the genes encoding hepatic nuclear factor 1 alpha and glucokinase. Diabetologia. Oct 2001;44(10):1326-1329. 62. Estalella I, Rica I, Perez de Nanclares G, et al. Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain. Clin Endocrinol (Oxf). Oct 2007;67(4):538-546. 63. McKinney JL, Cao H, Robinson JF, et al. Spectrum of HNF1A and GCK mutations in Canadian families with maturity-onset diabetes of the young (MODY). Clin Invest Med. Jun 2004;27(3):135-141. 64. Glucksmann MA, Lehto M, Tayber O, et al. Novel mutations and a mutational hotspot in the MODY3 gene. Diabetes. Jun 1997;46(6):1081-1086. 65. Collet C, Ducorps M, Mayaudon H, et al. Prevalence of the missense mutation Gly574Ser in the hepatocyte nuclear factor-1alpha in Africans with diabetes. Diabetes Metab. Feb 2002;28(1):39-44. 66. Kagami-Takasugi M, Katsumata N, Tanaka T, Tajima T, Fujieda K. Molecular genetic analysis of MODY candidate genes in Japanese patients with non-obese juvenile onset diabetes mellitus. J Pediatr Endocrinol Metab. Feb 2006;19(2):143-148. 67. Yang Z, Wu SH, Zheng TS, Lu HJ, Xiang KS. Identification of four novel mutations in the HNF-1A gene in Chinese early-onset and/or multiplex diabetes pedigrees. Chin Med J (Engl). Jul 5 2006;119(13):1072-1078. 68. Xu JY, Chan V, Zhang WY, Wat NM, Lam KS. Mutations in the hepatocyte nuclear factor-1alpha gene in Chinese MODY families: prevalence and functional analysis. Diabetologia. May 2002;45(5):744-746. 69. Xu JY, Dan QH, Chan V, et al. Genetic and clinical characteristics of maturity-onset diabetes of the young in Chinese patients. Eur J Hum Genet. Apr 2005;13(4):422-427. 70. Hwang JS, Shin CH, Yang SW, Jung SY, Huh N. Genetic and clinical characteristics of Korean maturity-onset diabetes of the young (MODY) patients. Diabetes Res Clin Pract. Oct 2006;74(1):75-81. 71. Radha V, Ek J, Anuradha S, Hansen T, Pedersen O, Mohan V. Identification of novel variants in the hepatocyte nuclear factor-1alpha gene in South Indian patients with maturity onset diabetes of young. J Clin Endocrinol Metab. Jun 2009;94(6):1959-1965. 72. Kooptiwut S, Sujjitjoon J, Plengvidhya N, et al. Functional defect of truncated hepatocyte nuclear factor-1alpha (G554fsX556) associated with maturity-onset diabetes of the young. Biochem Biophys Res Commun. May 22 2009;383(1):68-72. 73. Ellard S, Colclough K. Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young. Hum Mutat. Sep 2006;27(9):854-869. 74. Jafar-Mohammadi B, Groves CJ, Owen KR, et al. Low frequency variants in the exons only encoding isoform A of HNF1A do not contribute to susceptibility to type 2 diabetes. PLoS One. 2009;4(8):e6615. 75. Bellanne-Chantelot C, Carette C, Riveline JP, et al. The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3. Diabetes. Feb 2008;57(2):503-508. 76. Sharma S, Jhala US, Johnson T, Ferreri K, Leonard J, Montminy M. Hormonal regulation of an islet-specific enhancer in the pancreatic homeobox gene STF-1. Mol Cell Biol. May 1997;17(5):2598-2604. 77. Hart AW, Baeza N, Apelqvist A, Edlund H. Attenuation of FGF signalling in mouse beta-cells leads to diabetes. Nature. Dec 14 2000;408(6814):864-868. 78. Johansson KA, Grapin-Botton A. Development and diseases of the pancreas. Clin Genet. Jul 2002;62(1):14-23. 79. Stoffers DA, Zinkin NT, Stanojevic V, Clarke WL, Habener JF. Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. Nat Genet. Jan 1997;15(1):106-110. 80. Macfarlane WM, Frayling TM, Ellard S, et al. Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes. J Clin Invest. Nov 1999;104(9):R33-39. 81. Hani EH, Stoffers DA, Chevre JC, et al. Defective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset type 2 diabetes mellitus. J Clin Invest. Nov 1999;104(9):R41-48. 82. Edghill EL, Bingham C, Ellard S, Hattersley AT. Mutations in hepatocyte nuclear factor-1beta and their related phenotypes. J Med Genet. Jan 2006;43(1):84-90. 83. Bingham C, Ellard S, Allen L, et al. Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta. Kidney Int. Mar 2000;57(3):898-907. 84. Haldorsen IS, Vesterhus M, Raeder H, et al. Lack of pancreatic body and tail in HNF1B mutation carriers. Diabet Med. Jul 2008;25(7):782-787. 85. Lindner TH, Njolstad PR, Horikawa Y, Bostad L, Bell GI, Sovik O. A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta. Hum Mol Genet. Oct 1999;8(11):2001-2008. 86. Wang C, Fang Q, Zhang R, Lin X, Xiang K. Scanning for MODY5 gene mutations in Chinese early onset or multiple affected diabetes pedigrees. Acta Diabetol. Dec 2004;41(4):137-145. 87. Ulinski T, Lescure S, Beaufils S, et al. Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort. J Am Soc Nephrol. Feb 2006;17(2):497-503. 88. Bellanne-Chantelot C, Clauin S, Chauveau D, et al. Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5. Diabetes. Nov 2005;54(11):3126-3132. 89. Malecki MT, Jhala US, Antonellis A, et al. Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus. Nat Genet. Nov 1999;23(3):323-328. 90. Liu L, Furuta H, Minami A, et al. A novel mutation, Ser159Pro in the NeuroD1/BETA2 gene contributes to the development of diabetes in a Chinese potential MODY family. Mol Cell Biochem. Sep 2007;303(1-2):115-120. 91. Plengvidhya N, Boonyasrisawat W, Chongjaroen N, et al. Mutations of maturity-onset diabetes of the young (MODY) genes in Thais with early-onset type 2 diabetes mellitus. Clin Endocrinol (Oxf). Jun 2009;70(6):847-853. 92. Fernandez-Zapico ME, Mladek A, Ellenrieder V, Folch-Puy E, Miller L, Urrutia R. An mSin3A interaction domain links the transcriptional activity of KLF11 with its role in growth regulation. EMBO J. Sep 15 2003;22(18):4748-4758. 93. Neve B, Fernandez-Zapico ME, Ashkenazi-Katalan V, et al. Role of transcription factor KLF11 and its diabetes-associated gene variants in pancreatic beta cell function. Proc Natl Acad Sci U S A. Mar 29 2005;102(13):4807-4812. 94. Kuroda E, Horikawa Y, Enya M, et al. Identification of minimal promoter and genetic variants of Kruppel-like factor 11 gene and association analysis with type 2 diabetes in Japanese. Endocr J. Apr 2009;56(2):275-286. 95. Hui DY, Howles PN. Carboxyl ester lipase: structure-function relationship and physiological role in lipoprotein metabolism and atherosclerosis. J Lipid Res. Dec 2002;43(12):2017-2030. 96. Lombardo D. Bile salt-dependent lipase: its pathophysiological implications. Biochim Biophys Acta. Aug 29 2001;1533(1):1-28. 97. Auge N, Rebai O, Lepetit-Thevenin J, et al. Pancreatic bile salt-dependent lipase induces smooth muscle cells proliferation. Circulation. Jul 8 2003;108(1):86-91. 98. Higuchi S, Nakamura Y, Saito S. Characterization of a VNTR polymorphism in the coding region of the CEL gene. J Hum Genet. 2002;47(4):213-215. 99. Raeder H, Johansson S, Holm PI, et al. Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. Nat Genet. Jan 2006;38(1):54-62. 100. Bengtsson-Ellmark SH, Nilsson J, Orho-Melander M, Dahlenborg K, Groop L, Bjursell G. Association between a polymorphism in the carboxyl ester lipase gene and serum cholesterol profile. Eur J Hum Genet. Aug 2004;12(8):627-632. 101. Torsvik J, Johansson S, Johansen A, et al. Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes. Hum Genet. Jan 2010;127(1):55-64. 102. Sosa-Pineda B, Chowdhury K, Torres M, Oliver G, Gruss P. The Pax4 gene is essential for differentiation of insulin-producing beta cells in the mammalian pancreas. Nature. Mar 27 1997;386(6623):399-402. 103. Shimajiri Y, Sanke T, Furuta H, et al. A missense mutation of Pax4 gene (R121W) is associated with type 2 diabetes in Japanese. Diabetes. Dec 2001;50(12):2864-2869. 104. Mauvais-Jarvis F, Smith SB, Le May C, et al. PAX4 gene variations predispose to ketosis-prone diabetes. Hum Mol Genet. Dec 15 2004;13(24):3151-3159. 105. Plengvidhya N, Kooptiwut S, Songtawee N, et al. PAX4 mutations in Thais with maturity onset diabetes of the young. J Clin Endocrinol Metab. Jul 2007;92(7):2821-2826. 106. Zhou M, Zhang Y, Zhang D, et al. [PAX4 gene polymorphism and islet autoantibody-negative ketosis-prone diabetes.]. Zhong Nan Da Xue Xue Bao Yi Xue Ban. Mar 2010;35(3):215-221. 107. Frayling TM, Evans JC, Bulman MP, et al. beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors. Diabetes. Feb 2001;50 Suppl 1:S94-100. 108. Froguel P, Velho G. Non-sense mutation of glucokinase gene. Lancet. Feb 6 1993;341(8841):385. 109. Massa O, Meschi F, Cuesta-Munoz A, et al. High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI. Diabetes Study Group of the Italian Society of Paediatric Endocrinology and Diabetes (SIEDP). Diabetologia. Jul 2001;44(7):898-905. 110. Edghill EL, Minton JA, Groves CJ, et al. Sequencing of candidate genes selected by beta cell experts in monogenic diabetes of unknown aetiology. JOP. 2010;11(1):14-17. 111. Yamada S, Zhu Q, Aihara Y, et al. Cloning of cDNA and the gene encoding human hepatocyte nuclear factor (HNF)-3 beta and mutation screening in Japanese subjects with maturity-onset diabetes of the young. Diabetologia. Jan 2000;43(1):121-124. 112. Lim DM, Huh N, Park KY. Hepatocyte nuclear factor 1-alpha mutation in normal glucose-tolerant subjects and early-onset type 2 diabetic patients. Korean J Intern Med. Dec 2008;23(4):165-169. 113. Jap TS, Wu YC, Chiou JY, Kwok CF. A novel mutation in the hepatocyte nuclear factor-1alpha/MODY3 gene in Chinese subjects with early-onset Type 2 diabetes mellitus in Taiwan. Diabet Med. May 2000;17(5):390-393. 114. Decruyenaere M, Evers-Kiebooms G, Boogaerts A, Demyttenaere K, Dom R, Fryns JP. Partners of mutation-carriers for Huntington's disease: forgotten persons? Eur J Hum Genet. Sep 2005;13(9):1077-1085. 115. Hoedemaekers YF, Caliskan K, Michels M, et al. The Importance of Genetic Counseling, DNA Diagnostics and Cardiologic Family Screening in Left Ventricular Noncompaction Cardiomyopathy. Circ Cardiovasc Genet. Jun 8 2010. 116. Jardim LB, Villanueva MM, Souza CF, Netto CB. Clinical aspects of neuropathic lysosomal storage disorders. J Inherit Metab Dis. May 21 2010. 117. Jensen LH, Dysager L, Lindebjerg J, Kolvra S, Byriel L, Cruger DG. Molecular biology from bench-to-bedside - Which colorectal cancer patients should be referred for genetic counselling and risk assessment. Eur J Cancer. Apr 21 2010. 118. Chung CC, Magalhaes WC, Gonzalez-Bosquet J, Chanock SJ. Genome-wide association studies in cancer--current and future directions. Carcinogenesis. Jan 2010;31(1):111-120. 119. Howard KL, Filley CM. Advances in genetic testing for Alzheimer's disease. Rev Neurol Dis. Winter 2009;6(1):26-32. 120. Okita K, Yang Q, Yamagata K, et al. Human insulin gene is a target gene of hepatocyte nuclear factor-1alpha (HNF-1alpha) and HNF-1beta. Biochem Biophys Res Commun. Sep 24 1999;263(2):566-569. 121. Pontoglio M, Barra J, Hadchouel M, et al. Hepatocyte nuclear factor 1 inactivation results in hepatic dysfunction, phenylketonuria, and renal Fanconi syndrome. Cell. Feb 23 1996;84(4):575-585. 122. Vaxillaire M, Rouard M, Yamagata K, et al. Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3). Hum Mol Genet. Apr 1997;6(4):583-586. 123. Bristeau A, Catherin A, Weiss MC, Faust DM. Conserved as well as divergent regulatory elements account for expression of the human and rodent phenylalanine hydroxylase genes. Gene. Aug 22 2001;274(1-2):283-291. 124. Ser KH, Lee WJ, Lee YC, Chen JC, Su YH, Chen SC. Experience in laparoscopic sleeve gastrectomy for morbidly obese Taiwanese: staple-line reinforcement is important for preventing leakage. Surg Endosc. Feb 21 2010. 125. Giuffrida FM, Reis AF. Genetic and clinical characteristics of maturity-onset diabetes of the young. Diabetes Obes Metab. Jul 2005;7(4):318-326. 126. Stride A, Shepherd M, Frayling TM, Bulman MP, Ellard S, Hattersley AT. Intrauterine hyperglycemia is associated with an earlier diagnosis of diabetes in HNF-1alpha gene mutation carriers. Diabetes Care. Dec 2002;25(12):2287-2291. 127. Molven A, Ringdal M, Nordbo AM, et al. Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. Diabetes. Apr 2008;57(4):1131-1135. 128. Borowiec M, Liew CW, Thompson R, et al. Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction. Proc Natl Acad Sci U S A. Aug 25 2009;106(34):14460-14465. 129. Ellard S, Thomas K, Edghill EL, et al. Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young. Diabetologia. Nov 2007;50(11):2313-2317. | |
dc.identifier.uri | http://tdr.lib.ntu.edu.tw/jspui/handle/123456789/46234 | - |
dc.description.abstract | 年輕人成人型糖尿病(maturity-onset diabetes of the young, MODY)的患者雖然只佔所有糖尿病的2~5%,但是單基因體染色體顯性遺傳模式,可以讓患者家屬評估自身罹病風險、血糖管控及提早預防糖尿病併發症,也可讓醫護人員及患者本身根據特定的基因型差異而在一定程度內預估疾病的可能病程。目前已知有九個不同基因發生突變會導致MODY,也因此依照致病基因的不同又將MODY細分成九個亞型。根據過去文獻,歐洲的家族性MODY患者大約有70~80%能找到突變點,但是亞洲的患者能找到的機會卻不到20%,在台灣甚至只有一名個案找到突變點,但這是否就真的代表台灣地區的發生率,值得做深入性的探討。本研究收集四個MODY家族,再加上另一個還沒有篩檢過CEL、KLF11、PAX4基因的個案,共五名,以直接定序法進行MODY基因篩檢,結果在一名16歲就發病的女性MODY個案找到heterozygous HNF1αP379fsdelCT突變(MODY3),追查其他家人的基因型發現,個案的父親與妹妹都帶有heterozygous HNF1αP379fsdelCT 突變,但臨床症狀卻比個案輕微,顯示在同一個家族中,基因表現仍受到許多其他因素影響。另外在一名13歲發病的男性個案找到heterozygous CEL D504H變異(MODY8),但因為CEL基因與MODY疾病的相關研究還不多,此變異點是否真的就是此患者的致病基因還需要進一步的研究討論。
本研究結果不僅提供台灣MODY患者新的基因檢測資訊,在MODY3個案臨床症狀紀錄也有一些更新,希望對MODY患者在基因檢測與遺傳諮詢方面有所幫助。 | zh_TW |
dc.description.abstract | In diabetes, only 2-5% is maturity-onset diabetes of the young (MODY), single gene autosomal dominant inheritance diseases. According to the inheritance, patients and family members could assess their risk, monitor the blood sugar regularly and prevent diabetes complications early. Moreover, the health care workers and the patients can expect course of the disease within possible extent by different genotypes. To date, mutations in nine genes were identified to cause MODY, and subdivided into nine subtype of MODY. From the literatures, patients with family history of MODY in Europe, mutations can be found in 70 - 80%. However, mutations can be found in no more than 20% of the patients in Asia. In Taiwan, only one case was reported. But is this really the prevalence of MODY in Taiwan? In this study, we include 4 cases of MODY, and another case without any mutation in MODY1 - 6, totally 5 cases. By screening 9 MODY genes using direct sequencing, we found a case who had diabetes at 16 year old carries a heterozygous HNF1αP379fsdelCT mutation, her father and sister have the same mutation but with much milder clinical symptoms. And another boy who had onset at 13 years old has heterozygous CEL D504H variant. We are not sure whether the variant is a mutation yet, because there is no functional study or frequency report about this point.
This study not only provided new information of MODY genotypes in Taiwan, but also the novel clinical record of a MODY3 case. This study would help improve genetic testing and counseling of MODY. | en |
dc.description.provenance | Made available in DSpace on 2021-06-15T04:59:15Z (GMT). No. of bitstreams: 1 ntu-99-P97448007-1.pdf: 1968542 bytes, checksum: d62965f133337e22bdc8758b82f98174 (MD5) Previous issue date: 2010 | en |
dc.description.tableofcontents | 英文摘要 .................................................................................... 1
中文摘要 .................................................................................... 2 目錄 .............................................................................................. 3 圖、表目錄................................................................................. 4 前言 .............................................................................................. 5 MODY 介紹......................................................................... 8 MODY 基因盛行率............................................................. 18 基因檢測與遺傳諮詢.......................................................... 19 研究動機 .................................................................................... 22 實驗材料與方法........................................................................ 23 結果 ............................................................................................ 43 討論 ............................................................................................ 47 參考文獻 .................................................................................... 52 附錄 ............................................................................................ 62 | |
dc.language.iso | zh-TW | |
dc.title | 台灣年輕人成人型糖尿病病患的基因型與臨床表現 | zh_TW |
dc.title | Genetic and clinical characteristics of Taiwan maturity-onset diabetes of the young (MODY) patients | en |
dc.type | Thesis | |
dc.date.schoolyear | 98-2 | |
dc.description.degree | 碩士 | |
dc.contributor.oralexamcommittee | 蘇怡寧(Yi-Ning Su),蔡文友(Wen-Yu Tsai) | |
dc.subject.keyword | 年輕人成人型糖尿病,台灣,HNF1α,CEL,遺傳諮詢,基因檢測, | zh_TW |
dc.subject.keyword | maturity-onset diabetes of the young,MODY,Taiwan,HNF1α,CEL,genetic counseling,genetic testing, | en |
dc.relation.page | 64 | |
dc.rights.note | 有償授權 | |
dc.date.accepted | 2010-07-29 | |
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 |
文件中的檔案:
檔案 | 大小 | 格式 | |
---|---|---|---|
ntu-99-1.pdf 目前未授權公開取用 | 1.92 MB | Adobe PDF |
系統中的文件,除了特別指名其著作權條款之外,均受到著作權保護,並且保留所有的權利。