法医学杂志 ›› 2017, Vol. 33 ›› Issue (3): 271-276.DOI: 10.3969/j.issn.1004-5619.2017.03.012

• 技术与应用 • 上一篇    下一篇

内蒙古鄂温克族人群30个InDel位点遗传多态性

靳小业1,2,3,魏媛媛1,2,3,贺永锋4,郭瑜鑫1,2,3,梅  婷5,孟昊天1,2,3,张玉党6,孔婷婷1,2,3,朱波峰1,2,3   

  1. (1. 西安交通大学口腔医学院 陕西省颅颌面精准医学研究重点实验室,陕西 西安 710004; 2. 西安交通大学口腔医学院 陕西省牙颌疾病临床医学研究中心,陕西 西安 710004; 3. 西安交通大学口腔医院 口腔医学研究中心,陕西 西安 710004; 4. 陕西省公安厅刑事侦查局,陕西 西安 710016; 5. 新疆医科大学基础医学院生物化学与分子生物学教研室,新疆 乌鲁木齐 830011; 6. 安徽省公安厅物证鉴定中心,安徽 合肥 230061)
  • 发布日期:2017-06-25 出版日期:2017-06-28
  • 通讯作者: 朱波峰,男,博士,研究员,主要从事法医遗传学研究;E-mail:zhubofeng7372@126.com
  • 作者简介:靳小业(1992—),男,硕士研究生,主要从事法医遗传学研究;E-mail:1115259825@qq.com

Genetic Polymorphisms of 30 InDel Loci in Ewenki Ethnic Group from Inner Mongolia

JIN XIAO-YE1,2,3, WEI YUAN-YUAN1,2,3, HE YONG-FENG4, GUO YU-XIN1,2,3, MEI TING5, MENG HAO-TIAN1,2,3, ZHANG YU-DANG6, KONG TING-TING1,2,3, ZHU BO-FENG1,2,3   

  1. (1. Key Laboratory of Shaanxi Province for Craniofacial Precision Medicine Research, College of Stomatology, Xi′an Jiaotong University, Xi′an 710004, China; 2. Clinical Research Center of Shaanxi Province for Dental and Maxillofacial Diseases, College of Stomatology, Xi′an Jiaotong University, Xi′an 710004, China; 3. Research Center of Stomatology, Stomatological Hospital, Xi′an Jiaotong University, Xi′an 710004, China; 4. Department of Criminal Investigation, Shaanxi Provincial Public Security Bureau, Xi′an 710016, China; 5. Department of Biochemistry, Preclinical Medicine College, Xinjiang Medical University, Urumqi 830011, China; 6. Institute of Forensic Science of Anhui Public Security Department, Hefei 230061, China)
  • Online:2017-06-25 Published:2017-06-28

摘要: 目的 研究30个插入/缺失(insertion/deletion,InDel)位点在内蒙古地区鄂温克族人群中的遗传多态性,并评估其在法医学中的应用价值。 方法 采集87名鄂温克族健康无关个体的外周血样,提取基因组DNA,对样本的30个InDel位点进行复合扩增并分型,运用优化的PowerStats v1.2软件对各位点进行Hardy-Weinberg平衡检验及遗传学参数的计算,并采用SNPAnalyzer v2.0软件检验各位点间是否存在连锁不平衡。基于30个InDel位点的等位基因频率进行分子方差分析、主成分分析、系统发育树的构建,探讨鄂温克族与其他群体的关系。 结果 30个InDel位点经校正检验后符合Hardy-Weinberg平衡定律。经Bonferroni法校正后,两两配对的InDel位点之间处于连锁平衡状态。群体遗传学研究结果表明,鄂温克族与河南汉族和北京汉族的遗传关系较近,与欧洲和墨西哥地区的族群较远。 结论 30个InDel位点在内蒙古鄂温克族人群中具有相对较好的遗传多态性,可作为STR检测体系的有益补充。

关键词: 法医遗传学, 多态现象, 遗传, 插入/缺失位点, 鄂温克族, 内蒙古

Abstract: Objective To study the genetic polymorphisms of 30 insertion/deletion (InDel) loci and evaluate their forensic application in Ewenki ethnic group from Inner Mongolia. Methods Peripheral blood samples were collected from 87 unrelated healthy individuals in Ewenki ethnic group. Genomic DNA were extracted, and 30 InDel loci of the samples were multiplex amplified and genotyped. Hardy-Weinberg balance tests were preformed for all loci and genetic parameters were calculated by modified PowerStats v1.2 software. The linkage disequilibrium between loci were tested by SNPAnalyzer v2.0 software. Based on the allele frequencies of 30 InDel loci, the genetic relationships between Ewenki ethnic group and other populations were evaluated by analysis of molecular variance, principal component analysis and phylogenetic reconstruction. Results After correction, 30 InDel loci conformed to Hardy-Weinberg equilibrium. It was found that the pairwise InDel loci were in linkage equilibrium after Bonferroni correction. The results of population genetics indicated that Ewenki ethnic group had close genetic relationships with Henan Han and Beijing Han populations; whereas it was significantly different from several populations in Europe and Mexico. Conclusion There are relatively high genetic polymorphisms on 30 InDel loci of Ewenki ethnic group from Inner Mongolia, which can be used as a helpful supplement application for STR detection system.

Key words: forensic genetics, polymorphism,genetic, insertion/deletion, Ewenki ethnic group, Inner Mongolia

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