Please use this identifier to cite or link to this item: http://hdl.handle.net/11455/14250
標題: 基因PKD1突變與超音波檢測用於診斷短毛貓多囊腎病的相關性
Correlation between the PKD1 Gene Mutation and Ultrasonographic Examination in Diagnosis of Polycystic Kidney Disease in Domestic Short Hair Cat
作者: 黃瑩潔
Huang, Ying-Chieh
關鍵字: polycystic kidney disease
多囊腎病
domestic short hair cat
PKD1
ultrasonography
超音波
短毛貓
PKD1
出版社: 獸醫學系暨研究所
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摘要: 中文摘要 貓多囊腎病是貓最常見的遺傳性疾病,有極高的致死率,侵犯了全世界約36-49 %的波斯貓及波斯相關品種貓隻。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。貓PKD1 gene exon 29上的點突變,是造成貓多囊腎病的原因,這個點突變使得PKD1基因產生終止密碼子而無法製造出足夠的正常蛋白質,使得腎臟腎小管細胞異常的增生及凋亡而出現許多不正常的囊腫,並且這個嚴重的疾病有著自體顯性的遺傳模式。許多基因檢測方法被發展用來檢測這個重要的疾病。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。然而,目前大部分與這個疾病相關的文獻不論是影像學或是基因檢測方面,都著重在波斯與波斯相關品種的貓,之前我們實驗室調查的結果發現不但這個疾病在波斯貓有高盛行率,而且短毛品種的貓也有相當大的風險得到這個疾病。在本研究中,我們隨機收集了2008年9月至2010年4月到中興大學獸醫教學醫院就診的短毛品種貓隻,同時進行超音波學檢查並採血後萃取核苷酸,針對其PKD1基因exon 29進行點突變偵測,並且定序之後與正常序列比對,同時我們也試著從毛囊中抽取DNA,與血液來源的DNA進行交叉比對。在這個研究當中,我們一共收集了179隻以短毛貓為主的樣本進行分析,另外也將所收集到的樣本與本實驗室學姊之前所收集到的111隻以波斯貓為主的樣本合併進行統計分析。這290隻貓主要包含了短毛家貓(43.4%)、波斯貓(32.4%)、金吉拉(10%)、美國短毛貓(5.9%)和其他品種的貓(8.3%)。所有收集到的樣本都進行基因檢測,同時其中的132隻貓針對多囊腎病進行超音波檢測。結果顯示,以超音波及基因檢測多囊腎病在短毛貓的盛行率分別為12%和4%。以超音波檢查診斷為多囊腎病的貓隻在種別、診斷年齡、性別及腎臟指數都與未受侵犯的貓隻沒有顯著相關性,而以基因檢測帶有點突變的卻與性別、品種及被毛長短有顯著相關性,結果顯示雄性、波斯相關品種的貓和長毛貓有較高的風險罹患多囊腎病。與之前本實驗室所調查的結果不同的,短毛家貓患有多囊腎病的機率和其他短毛品種一樣,並沒有特別高,這顯示了之前的調查結果可能有採樣的偏差。其中三隻經過超音波檢查診斷為多囊腎病的貓,其PKD1基因檢測的結果卻正常,這個結果顯示就如同人類一樣,可能有其他基因(點)突變會造成多囊腎病。並且,所有利用PKD1基因檢測出帶有點突變的貓中,只有一隻作了詳細的超音波檢查卻沒有觀察到腎臟囊腫。推究其原因可能該貓只有三歲,囊腫的發展較慢,以致於小到超音波無法觀察到,或許我們可以利用人類的「Two-hit假說」來解釋這個有趣的現象,可能是由於基因、飲食或環境的因素使得該貓的囊腫發展較慢甚至不產生囊腫。由於採集毛髮進行DNA萃取來診斷PKD具有快速、方便、任何年齡均可施行等優點,加上PKD在波斯相關品種貓隻的高盛行率是不容忽視的,故採集毛髮進行基因檢測並同時施行超音波檢查,才能確實掌控疾病的發展並給予適當的治療,並能有效降低未來貓多囊腎病的盛行率。
Abstract Feline autosomal dominant polycystic kidney disease (PKD), an inherited disorder characterized by the development of renal cysts, is the most prevalent and potentially lethal monogenic disorder in cats. It affected 37-49% Persian and Persian-related cats worldwide. Recently, a CaA transversion resulting in a stop mutation has been identified in PKD affected cats and several gene tests had been established to indentify this point mutation. However, to date prevalent studies both in medical imaging and gene screening of this lethal disease are mainly focus on long-hair breed cats. Previous study of our laboratory revealed that not only Persian but also other domestic short-hair (DSH) breeds had a risk of developing PKD. In this study, we collected domestic short-hair cat admitted to the Veterinary Medicine Teaching Hospital of NCHU from September 2008 to April 2010. Ultrasonographic (USG) examination of kidneys of cats was performed. In addition, polymerase chain reaction (PCR) was used to amplify the PKD1 gene exon 29 of genomic DNA extracted from blood or hair follicle of cats, and sequences of PCR products were further identified by direct sequencing. The prevalence of PKD in short hair cats was investigated. In this study, we collected 179 cats mostly consisting of domestic shorthair cats, combined with 111 cats mostly consisting of Persian and Persian related breed collected by Hsin-Yu Chen. Totally 290 cats were analyzed mostly consisting of domestic shorthair (43.4%), Persian (32.4%), Chinchilla (10%), and American Shorthair (5.9%), and other species (8.3%). All cats were examined by genetic test; among them only 132 cats were screened by ultrasound. The results showed the prevalence of PKD affected domestic shorthair cats diagnosed by USG and gene testing were 12% and 4% respectively. There was no correlation in breeds, age of diagnosis, sex, renal index 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, breed, and the length of hair of cats with significant difference. The male cats, long hair cats and Persian-related breeds have higher risk to PKD than female cats. There were 3 PKD affected cats diagnosed by ultrasound were absent of PKD1 point mutation. The results suggested other mutations may contribute to feline PKD. Moreover, there was only one cat with the PKD1 gene point mutation and didn't show any cyst in ultrasonography. Perhaps we could explain this result through the “Two-Hit Hypothesis” in human. Other causes such as gene, food intake, and environment may alter the progression of this lethal disease. In conclusion, a paired use of ultrasound and genetic tests should be recommended in order to reach a complete medical condition of cats.
URI: http://hdl.handle.net/11455/14250
其他識別: U0005-1908201015541100
文章連結: http://www.airitilibrary.com/Publication/alDetailedMesh1?DocID=U0005-1908201015541100
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