利用聚合酶連鎖反應－變性梯度膠體電泳方法分析診斷家貓體染色體顯性多囊性腎臟病之初步探討

A Preliminary Study of Using the PCR-DGGE Assay for Detection the Autosomal Dominant Polycystic Kidney Disease in Domestic Cats

謝玉貞(Yu-Chen Hsieh) ； 鍾楊聰(Yang-Tsung Chung) ； 曾秋隆(Chau-Loong Tsang)

《農林學報》 60卷3期 (2011/09) Pp. 199-207

https://doi.org/10.30089/JAF.201109.0002

摘要

貓之體染色體顯性多囊性腎臟病（ADPKD）被認為是貓最常見家族性遺傳性疾病，常發生在波絲貓或是有波絲貓血統的貓。貓PKD1等位基因第29外顯子（exon）中的第3284個核苷酸轉換（C→A），所導致之點突變，是造成AD-PKD原因之一。目前臨床上主要使用腎臟超音波造影檢測方式來診斷ADPKD，本研究首先從2009至2010年間至中興大學獸醫教學醫院就診的貓隻，共收集7個樣本，利用腎臟超音波造影檢測初步診斷得到AD-PKD之4樣本，進而利用PCR-DGGE檢測，結果亦可檢測出4個樣本有PKD1等位基因外顯子突變。由此研究結果顯示利用PCRDGGE鑑別AD-PKD突變株的靈敏度及準確度與腎臟超音波造影檢查結果一致，故在診斷AD-PKD上提供另外一種分子鑑定分析技術之選擇。

關鍵字

貓之體染色體顯性多囊性腎臟病 ； 聚合酶連鎖反應－變性梯度膠體電泳方法 ； 腎臟超音波造影 ； 單一核苷酸多型性

並列摘要

The autosomal dominant polycystic kidney disease (AD-PKD) is a familial disease in cats and is characterized by the occurrence of fluid-filled cysts in the renal tissues. The cysts often lead to the kidney failure. The major cause of disease is a C→A point mutation at nt 3284 in the PKD1 gene. In clinical diagnosis, the renal ultrasounds are often used to diagnose AD-PKD. In this study, 7 blood samples were collected and analyzed by polymerase chain reaction-denaturing gradient gel electrophoresis (PCR-DGGE) method to detect single nucleotide polymorphisms (SNPs) in PKD1 gene. Among the 7 samples, 4 samples were preliminarily diagnosed with AD-PKD by renal ultrasounds. The 7 samples were further analyzed by PCRDGGE, and only 4 samples were diagnosed with AD-PKD. Therefore, the sensitivity and the accuracy of PCR-DGGE provides an alternative technique to distinguish AD-PKD mutants in cats.

並列關鍵字

Autosomal dominant polycystic kidney disease ； Polymerase chain reaction-denaturing gradient gel electrophoresis ； Renal ultrasound ； Single nucleotide polymorphisms