Balkan Journal of Medical Genetics

MUTATIONAL ANALYSIS OF MITOCHONDRIAL tRNA GENES IN PATIENTS WITH LUNG CANCER
He ZF, Zheng LC, Xie DY, Yu SS, Zhao J
*Corresponding Author: Dr. Jun Zhao, First Affiliated Hospital, Soochow University, Shizi Road, 215006, Suzhou, People’s Republic of China. Tel./Fax: +86-0512-65223637. E-mail: zhaojsz001@163.com
page: 45

RESULTS

Mutational Analysis of the Mitochondrial tRNA Genes. Mutational screening of the 22 mt-tRNA genes led us to identify five potential pathogenic mutations: tRNAAla T5655C, tRNAArg T10454C, tRNALeu(CUN) A12330G, tRNASer(UCN) T7505C and tRNAThr G15927A. Of these, the T5655C mutation was detected in one out of 200 patients (0.5%), the T10454C mutation was detected in two patients (1.0%), the A12330G mutation was detected in three patients (1.5%), the T7505C mutation was presented in one patient (0.5%) and the G15927A mutation was presented in four patients (2.0%). However, none of these mutations were found in the healthy controls. The characterization of each mt-tRNA mutation is listed in Table 1 and Figure 1. Phylogenetic Conservation Analysis. To see whether these mutations contributed to the genetic susceptibility of lung cancer, we performed the phylogenetic conservation analysis for each mt-tRNA mutations. We found that all these mutations exhibited high levels of CI (100.0%), indicating that these mutations may play important roles in lung cancer. The Pathogenicity Scoring System for These Mitochondrial tRNA Mutations. According to the revised pathogenicity scoring system, we found that the total score of the T5655C, T10454C, A12330G, T7505C and G15927A mutations were 11, 6, 14, 11 and 15 points, respectively, it seemed that except for the T10454C mutation, other mutations should be classified as “definitely pathogenic” (Table 2).

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