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法医学杂志 2017, Vol. 33 Issue (06) :611-614    DOI: 10.3969/j.issn.1004-5619.2017.06.009
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江苏汉族人群30个插入/缺失位点的遗传多态性
潘猛,居晓斌,刘燕婷,崔鹤,顾民,周惠英
(南京医科大学第一附属医院 江苏省人民医院司法鉴定所,江苏 南京 210029)
Genetic Polymorphism of 30 InDel Loci in Han Population from Jiangsu Province
PAN Meng, JU Xiao-bin, LIU Yan-ting, CUI He, GU Min, ZHOU Hui-ying
(Forensic Institution of Jiangsu Province Hospital, First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, China)

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摘要 目的 调查30个插入/缺失(insertion/deletion,InDel)位点在江苏汉族人群中的遗传学信息,评估Investigator?誖DIPplex试剂盒的使用价值,并用于指导江苏汉族人群的法医学分析。 方法 用Investigator?誖DIPplex试剂盒对江苏地区305名汉族健康无关个体进行常染色体InDel位点的分型检测,统计分析30个InDel位点的频率数据及遗传学参数。 结果 30个InDel位点在江苏汉族人群中的分布均符合Hardy-Weinberg平衡,有21个InDel位点的最小等位基因频率大于0.3。多态信息含量为0.089~0.375,个体识别率为0.093~0.500,二联体非父排除率为0.047~0.250,三联体非父排除率为0.046~0.219。30个InDel位点经连锁不平衡分析,各位点之间相互独立,累积个体识别率为1-7.369×10-8,二联体累积非父排除率为0.998 933 978,三联体累积非父排除率为0.997 806 392。除HLD118等5个位点外,群体间Fst值均小于0.06,在群体间差异较小。 结论 Investigator?誖DIPplex试剂盒中所含有的InDel位点可作为补充遗传标记应用于法医物证学相关检案工作。
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潘猛
居晓斌
刘燕婷
关键词法医遗传学;多态现象   遗传;插入/缺失;Investigator?誖DIPplex试剂盒;汉族;江苏     
Abstract: Objective To investigate the genetic information of 30 insertion/deletion (InDel) loci in Han population from Jiangsu Province, and to explore the application values of Investigator?誖DIPplex kit for guiding the forensic analysis in Han population from Jiangsu Province. Methods The autosomal InDel loci of 305 unrelated healthy Han individuals from Jiangsu Province were genotyped and analysed by Investigator?誖DIPplex kit, and the allelic frequencies and forensic parameters of 30 InDel loci were statistically analysed. Results The distribution of 30 InDel loci in Han population from Jiangsu Province conformed to Hardy-Weinberg equilibrium. The minor allele frequencies of 21 InDel loci were above 0.3. The polymorphism information content ranged from 0.089 to 0.375, while the discrimination power distributed from 0.093 to 0.500. The paternity exclusion in duo cases and trio cases were 0.047-0.250 and 0.046-0.219, respectively. The linkage disequilibrium analysis of 30 InDel loci showed that all loci were independent from each other. The combined discrimination power was 1-7.369×10-8, whereas the combined mean exclusion chance in duo cases was 0.998 933 978, in trio cases was 0.997 806 392. The Fst values were all less than 0.06 except HLD118 and other four loci, which showed small differences between groups. Conclusion The InDel loci of Investigator?誖DIPplex kit can be used as complementary genetic markers for the cases associated with forensic genetics.
Keywordsforensic genetics   polymorphism, genetic   insertion/deletion   Investigator?誖DIPplex kit   Han nationality   Jiangsu     
Corresponding Authors: 周惠英,女,高级实验师,副主任法医师,主要从事法医物证学研究;E-mail:780118873@qq.com   
About author: 潘猛(1979—),男,博士研究生,副研究员,主要从事法医物证学、医学免疫学研究;E-mail:462486743@qq.com
引用本文:   
潘猛, 居晓斌, 刘燕婷, 等.江苏汉族人群30个插入/缺失位点的遗传多态性[J]  法医学杂志, 2017,V33(06): 611-614
PAN Meng, JU Xiao-Bin, LIU Yan-Ting, DENG , et al..Genetic Polymorphism of 30 InDel Loci in Han Population from Jiangsu Province[J]  , 2017,V33(06): 611-614
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