Please use this identifier to cite or link to this item: http://hdl.handle.net/11455/13499
DC FieldValueLanguage
dc.contributor林春福zh_TW
dc.contributorChuen-Fu Linen_US
dc.contributor.advisor王孟亮zh_TW
dc.contributor.advisorMin-Liang Wongen_US
dc.contributor.author陳欣愉zh_TW
dc.contributor.authorChen, Hsin-Yuen_US
dc.contributor.other中興大學zh_TW
dc.date2009zh_TW
dc.date.accessioned2014-06-06T06:50:53Z-
dc.date.available2014-06-06T06:50:53Z-
dc.identifierU0005-0307200813275600zh_TW
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dc.identifier.urihttp://hdl.handle.net/11455/13499-
dc.description.abstract多囊腎病侵犯了全世界約37-49 %的波斯貓及波斯相關品種貓隻,是貓最常見的遺傳性疾病。多囊腎病的定義為出現在腎臟皮質及髓質各種不同大小充滿液體的囊腫,甚至是肝臟、胰臟及子宮都可以見到。這些從出生即出現的腎臟囊腫,會隨著年齡增加而變大,最後壓迫腎臟實質造成不可回復性的腎衰竭。貓PKD1 gene exon 29上的點突變,是造成貓多囊腎病的原因,並且有自體顯性的遺傳模式。超音波是目前被廣泛用於診斷多囊腎病的工具,可以見到患貓腎臟中無或低回音性、圓形或卵圓形、與周圍腎臟組織界限分明的囊腫影像。本研究的實驗方法為隨機收集2006年十二月至2008年四月間至中興大學獸醫教學醫院就診的波斯貓及波斯相關品種的貓隻,一方面進行腹腔超音波學檢查,包括膀胱、雙側腎臟及肝臟,並紀錄是否患有多囊腎病;另一方面採血後萃取核苷酸,再利用聚合酶鏈反應增幅貓PKD1基因exon 29,定序後和正常基因比對,區分正常或是突變的基因型。最後比較這兩個檢測的結果,並且探討各種可能影響多囊腎病發生的因素。本研究總共收集111個貓隻病例,其中70隻為波斯貓,其餘41隻貓來自其他品種,包括13隻金吉拉貓、10隻短毛家貓、5隻美國短毛貓、5隻喜馬拉雅貓、3隻布偶貓、2隻孟加拉貓、1隻英國短毛貓、1隻異國短毛貓和1隻暹邏貓。所有的病例都進行PKD1基因exon 29點突變檢測,但其中只有54隻貓經過腹腔超音波學檢查。結果顯示以超音波及基因檢測多囊腎病在波斯貓的盛行率分別為24.24 %及15.71 %,這個比例明顯小於過去的報告。以超音波檢查診斷為多囊腎病的貓隻,在種別、診斷年齡、性別、腎臟指數及腎臟外的病灶都與未受侵犯貓隻沒有顯著相關性。而以基因檢測帶有PKD1基因點突變的貓隻,卻發現與性別有相關性,雄性顯著大於雌性貓隻。帶有PKD1基因點突變的貓隻,經過超音波檢查後都發現患有多囊腎病,而3隻經過超音波檢查診斷為多囊腎病的貓隻,卻發現並未帶有PKD1基因點突變。這個結果暗示可能有其他基因突變會造成多囊腎病,甚至影響其性別的分布。利用針對PKD1之exon 29診斷貓多囊腎病可能會造成偽陰性的結果。此外,除了波斯貓之外其他短毛品系的貓隻也有罹患多囊腎病的危險性。持續幾年的調查是獲得實際貓多囊腎病貓隻盛行率所必須的。此外,發展聚合酶鍊反應-增幅阻礙突變系統應用於貓多囊腎病的已知點突變的診斷,期望可以對未來疾病的盛行率及基因型調查會有很大的幫助。zh_TW
dc.description.abstractFeline polycystic kidney disease (PKD) is the most prevalent inherited disease of cats. It affected 37-49% Persian and Persian-related cats worldwide. PKD is characterized by the growth of fluid-filled cysts of different sizes in renal cortex and medulla, liver, pancreases and uterus. These cysts arise at birth and become larger with age, oppressing the renal parenchyma leading to irreversible renal failure finally. The point mutation in feline PKD1 gene exon29 is responsible for feline PKD with an autosomal dominant trait. Ultrasonographic examination is widely used for diagnosis, the cyst images of anechoic or hypoechoic, round shape and well-differentiated from renal tissue are showed in PKD affected cats. We collected Persian and Persian-related cats submitted to NCHU VMTH from December 2006 to April 2008. Ultrasonographic (USG)examination of urinary bladder, both kidneys and liver of cats was performed. In addition, polymerase chain reaction (PCR) was applied to amplify PKD1 gene exon29 of feline genomic DNA extracted from anticoagulant blood and the sequences of resulting PCR products were further identified by direct sequencing. Finally, Attempt was made to search the possible factors that affect the occurrence of PKD by comparing the results of USG examination and PKD1 gene mutation. In this study, we collected 111 cats consisting of 70 Persians, 13 Chinchilla, 10 Domestic Shorthair, 5 Himalaya, 5 American Shorthair, 3 Ragdoll, 2 Bengal, 1 Irish Shorthair, 1 Exotic Shorthair and 1 Siamese. All of the cats were examined by genetic test; among them only 54 cats were screened by ultrasound. The results showed the prevalence of PKD affected Persian cats diagnosed by USG and gene testing were 24.24% and 15.71% respectively. The prevalence was lower than that was reported previously. There was no correlation in breeds, age of diagnosis, sex, renal index and extrarenal lesions between the PKD affected cats diagnosed by USG and unaffected cats. However, cats with the PKD1 gene point mutation detected by gene testing related to gender of cats with significant difference. The male cats have higher risk to PKD than female cats. Moreover, cats with the PKD1 gene point mutation and examined by USG were all diagnosed as PKD, but 3 PKD affected cats diagnosed by ultrasound were absent of this mutation. The results suggested other mutations resembled in human PKD, may contribute to feline PKD, even influence the sex distribution. The use of gene testing to diagnose feline PKD may cause false negative results. Furthermore, not only Persian but also other Shorthair breeds had a risk of developing PKD. However, in order to obtain the exactly prevalence of feline PKD in Tai-Chung, continued investigation and increase of sample size are needed. Besides the conventional PCR, in this study, PCR-Amplification Refractory Mutation System assay was successfully developed to detect the point mutation in PKD1 gene exon 29 without sequencing, this would facilitate the survey of feline PKD prevalence and the genotype in the future.en_US
dc.description.tableofcontents中文摘要 ....................................................................................................i 英文摘要 ...................................................................................................ii 目次 .........................................................................................................iii 表次 .........................................................................................................ix 圖次 .........................................................................................................xi 第三章 序言 ...............................................................................................1 第四章 文獻探討 .........................................................................................2 第一節 人類之腎臟囊性疾病 .........................................................................2 一、引起人類腎臟囊性疾病的機制 ................................................................3 二、人類腎臟囊性疾病的類型 ......................................................................3 (一)遺傳性多囊性腎臟異常(Hereditary Polycystic Kidney Disorders)................................................................................................3 (1)自體顯性多囊腎病(Autosomal Dominant Polycystic Kidney Disease, ADPKD)..........................................................................3 1. 人類ADPKD的流行病學及病因學調查 .......................................................3 2. 人類ADPKD的臨床表現 ...........................................................................4 3. 人類ADPKD的病理學研究 ........................................................................4 4. 人類ADPKD的診斷 .................................................................................5 (2)自體隱性多囊腎病(Autosomal Recessive Polycystic Kidney Disease, ARPKD)...................................................................................................5 1. 人類ARPKD的流行病學及病因學調查 ........................................................5 2. 人類ARPKD的臨床表現 ...........................................................................6 3. 人類ARPKD的病理學研究 ........................................................................6 4. 人類ARPKD的診斷 ..................................................................................7 (3)囊腫形成的理論:two-hit model ...........................................................7 (4)與PKD有關的蛋白質 ...........................................................................8 1. Polycystin-1 ( PC1 ) ...............................................................................8 2. Polycystin-2 ( PC2 ) ...............................................................................8 3. Fibrosystin / polyductin ...........................................................................8 (5)PKDs在細胞學及分子層面的致病機轉 .................................................10 1. 囊腫的增生、細胞凋亡和液體累積 ...........................................................10 2. 不當的細胞與細胞及細胞與基質間的附著 .................................................10 3. PKD可視為一種纖毛病變(Ciliopathy)...................................................10 a. Primary cilia的結構 ...............................................................................10 b. Primary cilia的功能 ...............................................................................11 i. Mechanosensor .....................................................................................11 ii. Cell cylcle regulator ...............................................................................12 c. PKD中信號傳導途徑的受損 ....................................................................13 i. cAMP活化路徑(cAMP-activated pathways)...........................................13 ii. Wnt的信號傳導(Wnt signaling)............................................................13 iii. mTOR的活化(mTOR activation)..........................................................13 (6)人類PKDs造成腎衰竭的機制 ..............................................................14 (7)人類ADPKD的治療 ...........................................................................14 1. 傳統療法 ..............................................................................................14 a. 體液和電解質的管理 ..............................................................................14 2. 對症療法 ..............................................................................................15 a. 疼痛控制 ..............................................................................................15 b. 腎臟感染 ..............................................................................................15 c. 高血壓 ..................................................................................................15 d. 腦部動脈瘤 ...........................................................................................16 e. 腎結石 ..................................................................................................16 3. 腎取代性療法 ........................................................................................16 a. 透析 .....................................................................................................16 b. 腎臟移植 ..............................................................................................16 4. 特異性療法 ...........................................................................................16 a. EGF receptor tyrosine kinase的抑制物 ....................................................17 b. 抑制細胞凋亡 ........................................................................................17 c. 調節cAMP的訊息傳導 ............................................................................17 d. mTOR的抑制 ........................................................................................17 e. Cyclin-dependent kinase(CDK)的抑制 .................................................18 f. 刺激polycystin-2調節的鈣離子釋放 ..........................................................18 (8)人類ADPKD的預後 ...........................................................................18 (二)後天囊性腎臟疾病(Acquired Cystic Kidney Disease, ACKD ..............18 (1)人類ACKD的流行病學及病因學調查 ....................................................18 (2)人類ACKD的病理學研究 ....................................................................19 (3)人類ACKD的診斷 .............................................................................19 (4)人類ACKD的治療 .............................................................................19 (三)腎臟髓質的囊性疾病 ........................................................................19 (1)腎髓質囊性疾病(Medullary Cystic Disease, MCD)............................19 1. 腎髓質囊性疾病的病因學研究 .................................................................19 2. 腎髓質囊性疾病的病理學研究 .................................................................20 3. 腎髓質囊性疾病的診斷 ...........................................................................20 4. 腎髓質囊性疾病的治療 ...........................................................................20 a. 針對鹽的消耗 ........................................................................................20 b. 針對貧血 ..............................................................................................21 (2)髓質海綿腎(Medullary Sponge Kidney, MSK)..................................21 1. 髓質海綿腎的病因學及流行病學 ..............................................................21 2. 髓質海綿腎的病理學研究 ........................................................................21 3. 髓質海綿腎的診斷 .................................................................................21 4. 髓質海綿腎的治療 .................................................................................22 (四)單純性囊腫(Simple Cysts)............................................................22 (1)單純性囊腫的病因學及流行病學 .........................................................22 (2)單純性囊腫的病理學研究 ...................................................................22 (3)單純性囊腫的診斷 .............................................................................22 (4)單純性囊腫的治療 .............................................................................22 第二節 貓之多囊腎病 .................................................................................23 一、貓之多囊腎病的流行病學研究 ..............................................................23 二、貓之多囊腎病的病因學研究 ..................................................................24 三、貓之多囊腎病的臨床表現 .....................................................................26 四、貓之多囊腎病的病理學研究 ..................................................................27 (一)囊腫外觀及分佈 ...............................................................................27 (二)上皮細胞增生 ..................................................................................28 (三) Na / K ATPase的異位 .....................................................................28 (四)腎臟外的器官病變 ...........................................................................28 五、貓之多囊腎病的診斷 ...........................................................................29 (一)超音波檢查 .....................................................................................29 (二)電腦斷層掃描 ..................................................................................30 (三)基因檢測技術 ..................................................................................30 六、多囊腎病的治療 ..................................................................................30 (一)慢性腎衰竭之治療 ...........................................................................31 (1)傳統療法 ..........................................................................................31 1. 利尿 .....................................................................................................31 2. 離子不平衡的矯正 .................................................................................31 3. 酸鹼不平衡的控制 .................................................................................32 (2)腎取代性治療 ...................................................................................32 1. 腹膜透析 ..............................................................................................32 2. 血液透析 ..............................................................................................32 3. 腎臟移植 ..............................................................................................32 (3)飲食療法 ..........................................................................................33 七、多囊腎病造成之腎衰竭的預後評估 ........................................................33 八、多囊腎病的移除 ..................................................................................33 第三節 聚合酶鏈反應-增幅阻礙突變系統(PCR-Ampilfication Refractory Mutation System, PCR-ARMS)..............................................................................34 一、PCR-ARMS的方法與起源 ....................................................................34 二、PCR-ARMS的基本理論 .......................................................................34 三、PCR-ARMS的設計概念 .......................................................................35 四、PCR-ARMS的類型 ..............................................................................36 (一)Single mutation PCR-ARMS ............................................................36 (二)Multiplex PCR-ARMS ......................................................................36 (三)Genotyping with PCR-ARMS ............................................................37 五、PCR-ARMS的優缺點 ..........................................................................37 第三章 材料與方法 ....................................................................................38 第一節 多囊腎病之病例收集 .......................................................................38 一、多囊腎病研究之病例來源 .....................................................................38 二、多囊腎病研究之病例收集標準與紀錄 ....................................................38 第二節 研究病例之超音波檢測 ...................................................................39 一、材料 .................................................................................................39 二、檢測方法與紀錄 .................................................................................39 第三節 研究病例之基因檢測 ......................................................................39 一、材料 .................................................................................................39 二、病例檢體之基因體核酸萃取 .................................................................40 三、聚合酶鍊鎖反應(Polymerase Chain Reaction, PCR) ..........................41 (一)PCR引子的設計 ..............................................................................41 (二)PCR反應 ........................................................................................41 四、PCR產物純化 .....................................................................................41 五、巢式聚合酶鍊鎖反應 (Nested PCR)...................................................42 (一)PCR引子的設計 ..............................................................................42 (二)PCR反應 ........................................................................................42 六、Nested PCR產物確認 ..........................................................................42 七、Nested PCR產物純化 ..........................................................................43 八、Nested PCR產物定序 ..........................................................................43 第四節 貓PKD1 gene exon 29的基因選殖.....................................................43 一、材料 ..................................................................................................43 二、Nested PCR產物的純化 ......................................................................44 三、接合反應(Ligation, TA cloning).........................................................44 四、轉形作用(Transformation).................................................................44 五、細菌培養 ............................................................................................44 六、菌株之挑選 ........................................................................................44 七、質體DNA的抽取 ..................................................................................45 第五節 PCR-ARMS於貓PKD1基因已知點突變的應用 ....................................45 一、PCR-ARMS用於診斷貓PKD1基因點突變的概念 .....................................45 二、PCR-ARMS的設計 ..............................................................................46 (一)PCR-ARMS引子的設計 ....................................................................46 (二)PCR-ARMS的增幅模式 ....................................................................46 三、PCR-ARMS的條件測試 .......................................................................47 四、PCR-ARMS的反應 ..............................................................................48 第六節 統計分析 ........................................................................................48 第四章 結果 ..............................................................................................49 第一節 貓多囊腎病的流行病學調查 ..............................................................49 一、病例收集的結果 ..................................................................................49 二、以超音波檢測貓多囊腎病的流行病學調查 ..............................................49 (一)貓多囊腎病的分析 ...........................................................................49 (1)品種的分析 ......................................................................................50 (2)性別的分析 ......................................................................................53 (3)診斷年齡的分析 ...............................................................................54 (4)腎臟指數的分析 ...............................................................................55 (5)腎臟囊腫的分析 ...............................................................................58 (6)肝臟囊腫的分析 ...............................................................................61 (7)臨床症狀的分析 ...............................................................................61 (二)貓多囊腎病與其他腎臟外病灶的分析 .................................................62 (1)膀胱內的高回音性物質 ......................................................................62 (2)貓下泌尿道疾病的分析 ......................................................................65 (3)膽囊與膽道的異常 ............................................................................67 (4)腫瘤的分析 ......................................................................................68 三、以基因檢測貓多囊腎病的流行病學調查 .................................................68 (一)聚合酶鍊反應的結果 ........................................................................68 (二)基因定序結果的判讀 ........................................................................69 (三)貓多囊腎病的分析 ...........................................................................70 第二節 以PCR-ARMS診斷貓PKD1基因點突變的測試結果 .............................70 一、利用階梯式溫度控制,尋求具有特異性的黏合溫度(annealing temprature).............................................................................................73 二、調整引子對與MgCl2的濃度,尋求最佳的反應條件 .................................74 三、以合適的反應條件,評估應用於樣本的成功率 .......................................75 第五章 討論 .............................................................................................77 第一節 貓多囊腎病的流行病學調查 .............................................................77 一、盛行率的分析 .....................................................................................77 二、品種的分析 ........................................................................................77 三、性別的分析 ........................................................................................78 四、診斷年齡的分析 ..................................................................................79 五、腎臟指數的分析 ..................................................................................79 六、腎臟囊腫的分析 ..................................................................................80 七、臨床症狀的分析 ..................................................................................81 八、腎臟外病灶的分析...............................................................................82 (一)肝臟的囊腫 .....................................................................................82 (二)膀胱內的高回音性物質 .....................................................................82 (三)貓下泌尿道疾病(Feline Lower Urinary Tract Disease, FLUTD)..........83 (四)膽囊與膽道的異常 ...........................................................................84 第二節 超音波及PKD1基因檢測於診斷貓多囊腎病的關係 ............................85 一、超音波及基因檢測對於診斷貓多囊腎病的差異 ........................................85 二、兩種診斷方法的評估 ...........................................................................85 第三節 利用PCR-ARMS技術偵測貓PKD1基因的已知點突變 ........................86 一、實驗設計及測試模式 ...........................................................................86 二、實驗結果的探討 ..................................................................................86 總結 ........................................................................................................88 附錄.........................................................................................................89 參考文獻...................................................................................................90zh_TW
dc.language.isoen_USzh_TW
dc.publisher獸醫學系暨研究所zh_TW
dc.relation.urihttp://www.airitilibrary.com/Publication/alDetailedMesh1?DocID=U0005-0307200813275600en_US
dc.subjectfeline polycystic kidney diseaseen_US
dc.subject貓多囊腎病zh_TW
dc.subjectPKDen_US
dc.subjectPKD1 geneen_US
dc.subjectmutationen_US
dc.subjectultrasonographyen_US
dc.subjectPersianen_US
dc.subjectPKD1基因zh_TW
dc.subject突變zh_TW
dc.subject超音波zh_TW
dc.subject波斯貓zh_TW
dc.title基因PKD1突變與超音波檢測用於診斷貓多囊腎病的相關性zh_TW
dc.titleCorrelation between the PKD1 Gene Mutation and Ultrasonographic Examination in Diagnosis of Feline Polycystic Kidney Diseaseen_US
dc.typeThesis and Dissertationzh_TW
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