https://scholars.lib.ntu.edu.tw/handle/123456789/475122
標題: | SLC25A13 gene mutations in Taiwanese patients with non-viralhepatocellular carcinoma | 作者: | Chang K.-W. HUEY-LING CHEN YIN-HSIU CHIEN Chen T.-C. Yeh C.-T. |
公開日期: | 2011 | 卷: | 103 | 期: | 3 | 起(迄)頁: | 293-296 | 來源出版物: | Molecular Genetics and Metabolism | 摘要: | Mutations of the SLC25A13 gene, which encodes citrin, result in adult-onset type II citrullinemia (CTLN2). Because CTLN2 has been associated with hepatocellular carcinoma (HCC) and may be involved in hepatocarcinogenesis, the objective of this study was to assess the frequency of SLC25A13 mutations in patients with non-viral HCC. A retrospective review of 154 patients with HCC, who underwent total tumor resection from July 1998 to August 2005, was conducted. After exclusion of 137 patients infected with hepatitis B and/or C viruses, 17 patients were analyzed. Genomic DNA from stored tumor and normal hepatic samples was analyzed for the SLC25A13 gene mutation. In addition, the clinicopathological and histopathological features of patients with and without the SLC25A13 gene mutation were compared. The SLC25A13 mutation was observed in two patients (12%), and the carrier rate was approximately 1 in 8 patients. The IVS6. +. 5G>A mutation was heterozygous in both normal hepatic and tumor tissues for case 1. On the other hand, the c.851del4 mutation was heterozygous in normal tissue but homozygous in tumor tissue for case 2. No significant differences in patient characteristics were observed. Further analyses of patients with SLC25A13 gene mutations may elucidate the relationship between the citrin gene and susceptibility of HCC. ? 2011 Elsevier Inc. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-79958034892&doi=10.1016%2fj.ymgme.2011.03.013&partnerID=40&md5=d162f550cc425194aa1db5e02a7cc4b3 https://scholars.lib.ntu.edu.tw/handle/123456789/475122 |
ISSN: | 1096-7192 | DOI: | 10.1016/j.ymgme.2011.03.013 | SDG/關鍵字: | carrier proteins and binding proteins; genomic DNA; slc 25 a 13 protein; unclassified drug; adult; aged; article; cancer grading; cancer surgery; cancer tissue; clinical article; disease severity; female; gene frequency; gene mutation; histopathology; human; human tissue; liver; liver cell carcinoma; male; priority journal; Taiwan; Adult; Aged; Carcinoma, Hepatocellular; Female; Genetic Predisposition to Disease; Genotype; Humans; Liver Neoplasms; Male; Middle Aged; Mitochondrial Membrane Transport Proteins; Mutation; Taiwan |
顯示於: | 醫學教育暨生醫倫理學科所 |
在 IR 系統中的文件,除了特別指名其著作權條款之外,均受到著作權保護,並且保留所有的權利。