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題名 | Denaturing High-performance Liquid Chromatography Screening for KvLQT1 Gene Variations in Patients with Atrial Fibrillation=以變性高效能液態層析法偵測心房顫動病患KvLQT1基因之變異 |
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作者 | 賴凌平; 蔡佳醍; 蘇怡寧; 黃瑞仁; 李純芳; 許寬立; 江福田; 曾春典; 曾淵如; 林俊立; Lai, Ling-ping; Tsai, Chia-ti; Su, Yi-ning; Hwang, Juey-jen; Lee, Chwen-fang; Hsu, Kwan-lih; Chiang, Fu-tien; Tseng, Chuen-den; Tseng, Yung-zu; Lin, Jiunn-lee; |
期刊 | Acta Cardiologica Sinica |
出版日期 | 20050300 |
卷期 | 21:1 2005.03[民94.03] |
頁次 | 頁37-45 |
分類號 | 415.31 |
語文 | eng |
關鍵詞 | 心房顫動; 遺傳學; 變性高效能液態層析法; Atrial fibrillation; KvLQT1; Genetics; DHPLC; |
中文摘要 | 背景 KvLQT1基因的突變可以造成遺傳性的心房顫動,然而,一般非遺傳性的心房顫動是否也和KvLQT1基因有關,則目前仍不明白。方法 本研究納入連續100名心房顫動患者以及50名沒有心房顫動的對照組,我們自週邊血液抽取白血球的DNA,並以聚合酶連鎖反應的方式放大其KvLQT1基因。我們接著以變性高效能液態層析法偵測其中的異結合子,並以DNA定序的方法決定其DNA變異。結果 在這100名心房顫動患者中,我們發現了6個單一核苷酸多形性,其中三個在intron中(intronl, 12, 13)兩個沒有胺基酸變化(C435T及G1638A)一個有胺基酸變化(C1343G,P44R)。其中intron 1及12的多形性只在一個病患中發現,至於其他4個多形性則較為常見而且也存在於正常人中,這四個多形性的發生率在病人組及正常人組之間並沒有顯著差異,若將心房顫動病患分成原發性心房顫動及因器實性心臟病所引起的心房顫動兩組,則兩組之間的多形性機率並沒有顯著差異。結論 在100名心房顫動患者中,我們並沒有發現任何KvLQT1基因的突變。我們雖然在病患中找到了一些單一核苷酸多形性,然而這些多形性的發生率在正常人及病患之間並無顯著差異,而在原發性心房顫動及器實性心房顫動患者間,也沒有顯著差異。 |
英文摘要 | Background: A mutation in the KvLQT1 gene has been reported to be responsible for autosomal dominant hereditary atrial fibrillation (Af). It is not known whether mutations in this gene are also responsible for Af in common clinical practice. Methods: We enrolled 100 consecutive patients with Af, as well as 50 normal individuals without Af. Total cellular DNA was isolated from peripheral leukocytes. Polymerase chain reactions were performed to amplify the translated region of the KvLQT1 gene. Denaturing high-performance liquid chromatography was subsequently used to screen for the presence of heteroduplexes, and DNA sequencing was applied to these heteroduplexes. Results: Among the 100 patients with Af, we identified six single-nucleotide polymorphisms (SNPs), including three intronic SNPs (in introns 1, 12, and 13, respectively), two synonymous SNPs (C435 to T and G1638 to A) and one non-synonymous SNP (C1343 to G with amino acid change P448 to R). Two of the intronic SNPs were present in only one patient with Af (intron 1 and intron 12). The other four SNPs were more common and were also present in normal individuals. The incidences of heterozygocity of the four common SNPs were not significantly different between normal individuals and patients of Af, nor were the incidences significantly different between patients with lone Af and patients with Af associated with organic heart disease. Conclusion: KvLQT1 mutation was not found in 100 patients with Af. Although common SNPs were identified, their incidences were not significantly different among normal individuals, patients with lone Af and patients with organic Af. |
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