甲状腺乳头状癌线粒体DNA D环区基因突变的临床意义

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Abstract Objective: To detect the mutations and microsatellite instability(mtMSI) in mitochondrial DNA(mtDNA) Dloop 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 Dloop region was amplified by polymerase chain reaction(PCR), the sequences of PCR products were detected by the prosand consdirected 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 DLoop 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 Dloop in human papillary thyroid carcinoma, which might play an important role in the pathogenesis of papillary thyroid carcinoma.

Received: 24 October 2016

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http://zzs.ujs.edu.cn/xbyxb/EN/ OR http://zzs.ujs.edu.cn/xbyxb/EN/Y2017/V27/I01/31

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