Significance of mitochondrial DNA D-loop region gene mutation in human papillary thyroid carcinoma
Muhammad Asad Iqbal1, LIU Yan-fang2， LIN Jiang2, XUE Di3, QIAN Wei1
（1. Department of Otolaryngology Head & Neck Surgery; 2. Central Laboratory; 3. Department of Pathology, the Affiliated People′s Hospital of Jiangsu University, Zhenjiang Jiangsu 212002, China)
Abstract：Objective: To detect the mutations and microsatellite instability(mtMSI) in mitochondrial DNA(mtDNA) Dloop region in human papillary thyroid carcinoma and to analyze their relationship with the clinicopathological parameters. Methods: A total of 96 cases of paraffin embedded human papillary thyroid carcinoma were analyzed in the study. After extracting DNA，the mtDNA Dloop region was amplified by polymerase chain reaction(PCR), the sequences of PCR products were detected by the prosand consdirected sequencing methods.The sequencing results were compared with the revised Cambridge reference sequence(rCRS) and the relevant database.The correlation between mtDNA mutation and clinical pathological parameters was analyzed. Results: Vast majority of mtDNA DLoop region sequences in paraffin embedded papillary thyroid carcinoma were successfully amplified using the nested PCR, the amplification success rate was 94.8%（91/96）; 255 mutations in 35 mutation sites were detected in 87 patients(90.6%) and microsatellite instability(mtMSI) was detected in D310 and D514 region; there was no significant difference in the number of mutations between patients with different ages, sex, tumor size and TNM staging(P＞0.05). Conclusion: There is high frequency of mutations in the mtDNA Dloop in human papillary thyroid carcinoma, which might play an important role in the pathogenesis of papillary thyroid carcinoma.
Muhammad Asad Iqbal1， 刘嫣方2， 林江2， 薛娣3， 钱炜1. 甲状腺乳头状癌线粒体DNA D环区基因突变的临床意义[J]. 江苏大学学报:医学版, 2017, 27(01): 31-35.
Muhammad Asad Iqbal1, LIU Yan-fang2， LIN Jiang2, XUE Di3, QIAN Wei1. Significance of mitochondrial DNA D-loop region gene mutation in human papillary thyroid carcinoma. Journal of Jiangsu University(Medicine Edition), 2017, 27(01): 31-35.
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2017, Vol. 27 
