Mitochondrial intergenic COII/tRNALys 9-bp deletion, a biomarker for hepatocellular carcinoma?

作者:Ren, Weihua; Li, Yawei*; Li, Rui; Feng, Hongbo; Wu, Shuangting; Mao, Yuhui; Huang, Lei
来源:Mitochondrial DNA Part A, 2016, 27(4): 2520-2522.
DOI:10.3109/19401736.2015.1036256

摘要

The COII/tRNA(Lys) intergenic 9-bp deletion is one of the most commonly studied human mitochondrial DNA (mtDNA) polymorphisms. It consists of the loss of one of two tandemly repeated copies of the sequence CCCCCTCTA from a non-coding region located between cytochrome oxidase II (COII) and tRNA(Lys) gene. Most recently, case-control studies have shown a positive association between this deletion with hepatocellular cancer. In this study, we first performed a detailed analysis between this deletion and clinical diseases; moreover, we took the phylogenetic approach to examine the pathogenicity status of 9-bp deletion.

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