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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 study the polymorphism distribution of 15 295 Han individuals from central southern China in Hebei Province using 15 simple tandem repeats (STRs) of PowerplexTM 16 fluorescently labeled multiplex amplification system and to establish the genetic basis of Han population in south central Hebei Learn the basic data. Methods: DNA samples of 25 295 Han individuals in central and southern Hebei were detected by Chelex-100 method with Powerplex 16 fluorescent labeling multiplex amplification system and ABI 3130 Genetic Analyzer. The genotypes of 15 STR loci were calculated. Population genetic parameters such as genetic frequency, heterozygosity (Ho), polymorphism information contents (PIC), discrimination power (DP) and probability of paternity exclusion (PE) , And Handy-Weinberg balance test. Results: The 15 loci were highly polymorphic in the population. The distribution of genotypes was in accordance with the Handy-Weinberg equilibrium (P> 0.05). A total of 293 alleles and 1364 genotypes were detected, the frequency of which was between 0.002% and 51.58%, the degree of heterozygosity (Ho) between 0.6206 and 0.9146, and the PIC between 0.5610 and 0.8967 , Cumulative individual discrimination power (CDP) was 0.999 999 999 999 999 996 156, and the cumulative probability of paternity exclusion (CPE) was 0.999 999 663. CONCLUSION: The 15 STR loci of the Powerplex ™ 16 fluorescent-labeled multiplex amplification system are suitable as genetic markers for Han population in central-southern Hebei Province. Through a large number of sample experiments, we obtained for the first time objective and reliable genetic data of 15 STR loci in the Han population in southern central Hebei province, providing basic data for genetic disease linkage analysis, forensic paternity test and individual identification.