Analysis of KLK1 Gene-130Gn Polymorphism with the Risk of Parkinson's Disease
dc.contributor.author | 黃淑宜 | zh_tw |
dc.contributor.author | 莊蕙瑄 | zh_tw |
dc.contributor.author | 陳瓊美 | zh_tw |
dc.contributor.author | 吳逸如 | zh_tw |
dc.contributor.author | 李桂楨 | zh_tw |
dc.date.accessioned | 2014-10-27T15:02:13Z | |
dc.date.available | 2014-10-27T15:02:13Z | |
dc.date.issued | 2005-06-?? | zh_TW |
dc.description.abstract | 帕金森氏症為一常見的神經退化性疾病,和遺傳及環境因素相關。KLK1為一serine protease,在人體包括大腦皮質、海馬迴等多處部位皆有表現。本研究的目的在探討KLK1基因啟動子-130G(下標 N)多型性與國人帕金森氏症感受性的相關性。-130G(下標 N)多型性基因型的分析方法包括螢光PCR產物的長度分析、單股核酸構形多型性/異雙股分析及DNA定序等。所研究樣品群包括208位帕金森氏症患者及95位正常人。結果共觀察到五種對偶基因:I (G9)、A (G10)、B (G2CG7)、H (G11)、K (Gl2)。多型性對偶基因的啟動子轉錄活性分析顯示,在人類胚胎腎細胞HEK-293及人類腦癌細胞IMR-32中,A、B、H對偶基因的轉錄活性並無顯著差異,但三者的轉錄活性均較K對偶基因顯著的好。進一步的依據含或不含K對偶基因的基因型,或K對偶基因頻率,進行X^2統計分析,結果顯示在正常人族群與帕金森氏症患者群間,並未呈現顯著差異。故推論KLK1基因啟動子多型性,雖然會影響其在人類胚胎腎細胞及腦癌細胞中的表現量,但其變異和國人帕金森氏症的感受性並沒有太大關連性。 | zh_tw |
dc.description.abstract | Parkinson's disease (PD) is a common neurodegenerative disorder involving several genetic and environmental components. Human tissue kallikrein (KLK1) is a serine protease expressed in both the cerebral cortex and hippocampus. In this study v e investigated the association of KLK1 gene -130G(subscript N) polymorphism with the risk of Parkinson's disease. The -130G(subscript N) polymorphism as analyzed by electrophoresis of fluorescenced PCR products in sequencing gels. single-strand conformation polymorphism (SSCP)/heteroduplex analysis and DNA sequencing. Two hundred and eight patients with PD and 95 normal controls ere examined. Five alleles ere identified in the KLK1 promoter: I (G9), A (G10), B (G2CG7), H (G11), and K (G12). A reporter construct containing the K allele cloned into a luciferase reporter plasmid drove significantly lower transcriptional activity of KLK1 as compared with the A, B, and H alleles in both HEK-293 and IMR-32 cells. However, when the genotype and allele frequencies with or without K allele were analyzed, no statistically significant difference as observed between PD patients and controls. Therefore, the results indicate that although associated with lower transcriptional activity, KLK1 -130G(subscript N) K allele as not associated with the risk of Taiwanese PD. | en_US |
dc.identifier | E7A62DA6-D435-1564-C9A5-219EAA83C754 | zh_TW |
dc.identifier.uri | http://rportal.lib.ntnu.edu.tw/handle/20.500.12235/7130 | |
dc.language | 中文 | zh_TW |
dc.publisher | 國立臺灣師範大學生命科學學系 | zh_tw |
dc.publisher | Department of Life Science, NTNU | en_US |
dc.relation | 40(1),9-15 | zh_TW |
dc.relation.ispartof | 生物學報 | zh_tw |
dc.subject.other | -130Gn多型性 | zh_tw |
dc.subject.other | 帕金森氏症 | zh_tw |
dc.subject.other | 疾病感受性 | zh_tw |
dc.subject.other | KLK1 | en_US |
dc.subject.other | -130G[fed7] polymorphism | en_US |
dc.subject.other | Parkinson's disease | en_US |
dc.subject.other | Disease susceptibility | en_US |
dc.title | Analysis of KLK1 Gene-130Gn Polymorphism with the Risk of Parkinson's Disease | zh-tw |
dc.title.alternative | KLK1基因啟動子-130Gn多型性與帕金森氏症感受性的分析 | zh_tw |
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