摘要
目的：研究PowerplexTM 16荧光标记复合扩增系统的15个短串联重复序列（simple tandem repeats,STR）在河北中南部地区25 295例汉族个体的多态性分布,建立河北中南部地区汉族群体的遗传学基础数据。方法：采用Chelex-100法应用Powerplex TM 16荧光标记复合扩增系统和ABI 3130遗传分析仪对25 295例河北中南部地区汉族个体血样DNA进行检测,统计计算15个STR基因座的基因型分布,基因频率,杂合度（heterozygosity,Ho）,多态信息量（polymorphism information contents,PIC）,个体识别率（discrimination power,DP）,非父排除率（probability of paternity exclusion,PE）等群体遗传学参数,并进行Handy-Weinberg平衡检验。结果：15个基因座在群体中具有较高多态性,基因型分布均符合Handy-Weinberg平衡定律（P〉0.05）。共检测出293个等位基因,1364种基因型,基因频率在0.002%~51.58%之间,杂合度（Ho）在0.6206~0.9146之间,多态信息量（PIC）在0.5610~0.8967之间,累积个人识别率（cumulative individual discrimination power,CDP）为0.999 999 999 999 999 996 156,累积非父排除率（cumulative probability of paternity exclusion,CPE）为0.999 999 663。结论：Powerplex TM 16荧光标记复合扩增系统的15个STR基因座适合作为河北中南部汉族群体的遗传标记。通过大量样本实验,首次得到了客观可靠的河北中南部地区汉族群体15个STR基因座群体遗传资料,为遗传疾病连锁分析、法医学亲权鉴定和个体识别等领域研究提供基础数据。
Objective：To investigate the genetic polymorphism of 15 short tandem repeat loci（STR） in the 25 295 Han nationality individuals from central and southern area of Hebei province,to establish the genetic database of the Han nationality from south and central of Hebei. Methods：DNA were extracted by Chelex-100 method,and 15 STR loci were tested by PowerplexTM 16 fluorescence labeling composite amplification system and ABI3130 genetic determined system. The genetic parameters for 15 STR loci were calculated,such as genotype distribution,gene frequency,polymorphism information content（PIC）,individual discrimination power（DP）,probability of paternity exclusion（PE） and heterozygosity（Ho）. HandyWeinberg balance was inspected. Results：15 STR loci had abundant genetic polymorphism,and genotype distribution were accord with Handy-Weinberg balance（P0.05）. 293 alleles and 1364 kinds of genotypes were checked out,gene frequencies were between 0.002% and 51.58%,heterozygosity（Ho） between 0.6206 and 0.9146,polymorphism information content（PIC）between 0.5610 and 0.8967. The cumulative individual discrimination power（CDP） was 0.999 999 999 999 999 996 156,and cumulative probability of paternity exclusion（CPE） was 0.999 999 663. Conclusion：15 STR loci of Powerplex TM 16 fluorescence labeling composite amplification system are suitable as the genetic markers for the Han nationality from central and southern of Hebei. By analyzing a large number of cases,objective genetic information of 15 STR loci in the Han nationality from central and southern of Hebei are obtained for the first time,which benefit for the genetic linkage analysis,forensic paternity test and individual identification.
出处
《中国优生与遗传杂志》
2016年第9期8-10,70,共4页
Chinese Journal of Birth Health & Heredity
基金
全军后勤科研计划重点项目(军事作业环境下快速优生基因诊断保障体系的建立
No.BBJ13C001.)
关键词
STR
基因频率
遗传标记
多态性
河北中南部
STR
Gene frequency
Genetic marker
Polymorphism
Central and southern area of Hebei province
