| 尔丽绵,吴明利,李 勇.线粒体DNA单倍群N9a与胃肠胰神经内分泌肿瘤发病风险的关系[J].肿瘤学杂志,2018,24(4):355-359. |
| 线粒体DNA单倍群N9a与胃肠胰神经内分泌肿瘤发病风险的关系 |
| The Relationship of N9a Haplogroup of Mitocondrial DNA with the Risk of Gastroenterpancreatic Neuroendocrine Neoplasm |
| 投稿时间：2017-05-24 |
| DOI：10.11735/j.issn.1671-170X.2018.04.B013 |
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| 中文关键词: 单核苷酸多态性 胃肠胰神经内分泌肿瘤 D-loop |
| 英文关键词:single nucleotide polymorphism gastroenteropancreatic neuroendocrine tumors D-loop |
| 基金项目:河北省医学科学研究重点课题计划(20160620；ZL20140022) |
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| 中文摘要: |
| 摘 要：［目的］ 探讨线粒体DNA(mtDNA)非编码区D-loop区单核苷酸多态性及归属单倍体群与胃肠胰神经内分泌肿瘤（Gastroenteropancreatic neuroendocrine neoplasm，GEP-NEN）发病风险的关系。［方法］ 对130例GEP-NEN及148例正常健康对照组外周血mtDNA D-loop区序列进行DNA测序，通过与线粒体文库中的Revised Cambridge Reference Sequence (rCRS)比对分析两组人群中mtDNAD-loop区多态位点出现频率的差异。［结果］在GEP-NEN组和对照组中mtDNA D-loop区共检测到148个单核苷酸多态性（SNP）位点。筛选出23个SNP位点等位基因频率＞5% 的单核苷酸多态位点用于肿瘤发病风险分析。GEP-NEN组患者mtDNA D-loop区的73G、150T、151T、492C、16257A、16261T和16399G出现的频率明显高于对照组，差异均有统计学意义(P<0.05)，其中150T、16257A、16261T均属于N9a单倍群。［结论］mtDNA D-loop区多态性位点线粒体D-loop区的突变分析对GEP-NEN高危人群具有诊断价值，线粒体DNA单倍体群N9a可能与GEP-NEN发病风险相关。 |
| 英文摘要: |
| Abstract：［Objective］To observe the relationship between single nucleotide polymorphism in the D-loop genomic region of the mitochondrial DNA noncoding region and Gastroenteropancreatic neuroendocrine neoplasm(GEP-NEN). ［Methods］ The D-Loop region of mtDNA was sequenced for 130 cases of GEP-NEN and 148 healthy controls. Compared with the Revised Cambridge Reference Sequence(rCRS) in the mitochondrial library，the frequencies of polymorphism in the mtDNAD-loop region were analyzed between the two groups. ［Results］a total of 148 single nucleotide polymorphisms(SNP) were detected in the D-loop mtDNA region of the control group and the GEP-NEN group. Allele frequency >5% single nucleotide polymorphism loci were used to analyze the risk of cancer，and 23 SNP loci were screened out. Compared with the healthy control group，GEP-NEN group of patients with mtDNA D-loop 16293G District of 73G，150T，151T，492C，16257A，16261T and 16399G frequency significantly increased，the difference was statistically significant(P<0.05) There was significant difference(P=0.001) loci 150T，16257A，16261T belong to haplogroup N9a. Conclusion：SNPs in the mtDNA D-Loop were found to be valuable markers for GEP-NEN risk evaluation，and the mitochondrial DNA haplotype N9a may be associated with the risk of GEP-NEN. |
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