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題名 | Linkage Analysis of Families with Autosomal Dominant Polycystic Kidney Disease by KG8-CA Marker=利用KG8-CA基因標誌以聯結分析法診斷成人型多囊性腎臟病 |
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作者 | 袁輔仁; 林傑瑜; 陳振文; 楊勉力; 吳香達; Yuan, Catherine Fu-jen; Lin, Chieh-yu; Chen, Tzen-wen; Yang, Man-li; Ng, Heung-tat; |
期刊 | 中華醫學雜誌 |
出版日期 | 19970900 |
卷期 | 60:3 1997.09[民86.09] |
頁次 | 頁125-129 |
分類號 | 415.74 |
語文 | eng |
關鍵詞 | 體染色體顯性多囊性腎臟病; 聚合酶連鎖反應; 症狀發生前之診斷; Autosomal dominant polycystic kidney disease; Polymerase chain reaction; Presymptomatic diagnosis; |
中文摘要 | 背景:成人型多囊性腎臟病是最常見的遺傳疾病之一,歐美國家的發病率約為1/1000,佔慢性腎功能衰竭病患1/10,其遺傳型態為體染色體顯性遺傳(autosomal dominant inheritance)。我國目前尚無有關此遺傳疾病之確切資料。此病傳統診斷方法是利用超音波掃描偵測腎臟中囊腫的存在,此方法的缺點為無法有效應用在疾病發生前的早期診斷。本研究的目的是利用分子診斷技術觀察基因突變,為成人型多囊性腎病之病患及其家屬提供病狀發生前之診斷。 方法:本研究利用基因標記KG8-CA做為引子,經過聚合�t連鎖反應(PCR)來增幅DNA。KG8-CA在PKD1基因位置離SD6.0區位接近之處,其核酸序列為5'-CTCCCAGGGTGGAGGAAGGTG-3' 和 5'-GCAGGCACAGCCAGCTCCGAG-3'。聚合�t連鎖反應的產物,在變性狀態(denaturing condition)下利用自動放射照相術分析。 結果:在分析四個家族中,每一個家族均有一共同核酸片段,在凝膠電泳反應中以共同明帶顯示,其可能為正常基因。此外,有一至二片段較正常明帶電泳移動位置不同,此現象可解釋為基因病變所致。由於PKD1之基因多型性(polymorphism)頗高,故每家族之分析呈不同型態。在各家族中均發現臨床上正常之個人,但在凝膠電泳反應中均有家族獨特性之共同病變PKD-1基因的型式,此現象可解釋為這些家族成員具有病變基因然而臨床上尚無症狀發生。因此,本方法將可有效應用在成人型多囊性腎臟病的早期診斷上。 結論:正確的診斷方法對遺傳疾病的防治極為重要。近年來,由於分子生物科技之突飛猛進,在遺傳疾病的診斷方面有重大的突破,先進國家的各研究機構均致力於分離和確認致病基因及其突變作為診斷基礎。本研究利用聚合�t連鎖反應方法觀察基因突變可作為成人型多囊性腎臟病之患者之確認診斷或早期診斷。 |
英文摘要 | Background: Autosomal domisnant polycystic kidney disease (ADPKD) is one of the most common genetic diseases of human. Traditionally, ADPKD is diagnosed by ultrasonography, computed tomography (CT) or magnetic resonance imaging (MRI) of kidneys for the presence of renal cysts. Individuals who carry the defective gene but have not yet developed cysts in kidney may not be diagnosed. Genetic analysis reveals it to be caused mostly by a single-gene disorder of a genetic locus, designated PKD1. Recently, the genetic locus involving PKD1 has been identified on chromosome 16p13.3, and has been cloned and completely sequenced. Methods: A pair of primers, KG8-CA, located between D16S84 and D16S125, was selected and synthesized for the polymerase chain reaction (PCR) to identify individuals who may carry the defective locus. The sequence of KG8-CA primers was 5'-CTCCCAGGGTGGAGGAAGGTG-3' and 5'-GCAGGCACAGCCAGCTCCGAG-3'. PCR products were analyzed in denaturing condition, using gel containing 8% acrylamide and 7M urea. Autoradiography was carried out to interpret the results. Results: Four Chinese families with history of ADPKD showed different DNA patterns in individuals with ADPKD and in normal individuals. Among the members in four families with history of ADPKD, every individual shared a common DNA band, suggesting that this band was derived from normal PKD1 allele. On the other hand, individuals diagnosed to have ADPKD showed one or two additional DNA bands which migrtated differently from the common DNA band and should therefore be derived from defective ADPKD allele. Previous studies have shown that the ADPKD allele is highly polymorphic, as was evident in these family studies. Conclusions: Among the members from these four families, some were clinically normal and had DNA pattern that was typical to patients with ADPKD. These individuals might carry the defective PKD1 allele but have not yet developed the ADPKD symptoms. Therefore, the method described in this study has diagnostic values for pre-symptomatic individuals as well as for patients already diagnosed with ADPKD. |
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