江苏汉族人群全新STR基因座的遗传多态性分析  

A genetic polymorphism analysis on the new STR loci among Jiangsu Han population

作　　者：陈奇[1] 潘猛[1] 张小燕[1] 居晓斌[1] 刘燕婷[1] 崔鹤[1] 周惠英[1] Chen Qi Pan Meng Zhang Xiaoyan Ju Xiaobing Liu Yanting Cui He Zhou Huiying(Judicial A uthentication Institute, the First Affiliated Hospital of NJMU, Nanjing 210029, China)

机构地区：[1]南京医科大学第一附属医院司法鉴定所,江苏南京210029

出　　处：《南京医科大学学报（自然科学版）》2016年第11期1344-1347,共4页Journal of Nanjing Medical University(Natural Sciences)

摘　　要：目的 :分析全新短串联重复序列(short tandem repeat,STR)基因座在江苏人群中的基因多态性和基因频率。方法 :2015年江苏省598例无血缘关系的汉族个体,利用STRtyper-10G Direct Kit试剂盒对9个STR位点进行扩增,自动基因分析仪进行片段分析并进行基因分型。结果:累积STR等位基因共发现111个,其中罕见等位基因13个。基因型频率大于0.08的基因型组合13个,其中D13S325基因座的等位基因型19/20的频率最高达到0.130 4,杂合度达到了0.851±0.068,随机个体相同表型偶合率为0.054±0.022,个体识别能力为0.946±0.022,多态信息总量为0.808±0.052,非父排除率达到了0.697±0.130。结论:通过大量的样本实验和等位基因频率总结,得到了江苏人群更多基因多样性的客观数据,以便在出现微变异等情况时满足进一步实际应用的需要。Objective：To describe the distribution of polymorphic site of the new short tandem repeat（STR） loci in Jiangsu Chinese Han population. Methods：A total of 9 STR loci were amplified by STRtyper-10 G Direct Kit and genotyped by Genetic Analyzer,and all samples were collected from 598 unrelated individuals in Jiangsu Han population during 2015. Results：A total of 111 genotypes were found,of which 13 were rare alleles. The frequency,greater than 0.08,was 13,of which the maximum frequency of ＂19/20＂ from D13S325 locus was 0.130 4. Heterozygosity was 0.851 ± 0.068,matching probability was 0.054 ± 0.022,polymorphism information content was 0.808 ± 0.052,power of discrimination was 0.946 ± 0.022 and probability of paternity exclusion was 0.697 ± 0.130.Conclusion：With the analysis of alleles in a large number of samples and frequencies,objective alleles of more genetic polymorphism data of Jiangsu population should be obtained,so that the need of further practical application could be met in the case of micro alterations.

关 键 词：亲权鉴定 江苏人群 基因多态性 全新短串联重复序列 

分 类 号：R394-33[医药卫生—医学遗传学]