Development and validation of a human SNP genetic marker detection system based on next generation sequencing technology
10.13618/j.issn.1001-5728.2024.04.012
- VernacularTitle:基于二代测序技术的人类SNP遗传标记检测体系的建立及验证
- Author:
Jing YANG
1
;
Minmin XU
;
Shu HUANG
;
Na LV
Author Information
1. 北京阅微基因技术股份有限公司,北京 100037
- Keywords:
Forensic genetics;
Genetic marker;
Next generation sequencing(NGS);
Single nucleotide polymorphisms(SNP);
Systemic development and validation
- From:
Chinese Journal of Forensic Medicine
2024;39(4):439-443
- CountryChina
- Language:Chinese
-
Abstract:
Objective Construct a human SNP genetic marker detection system using next generation sequencing technology and validate the system performance.Methods Based on multiple PCR amplification and capture technology,a set of detection system containing 621 autosomal SNPs and 398 Y chromosome SNPs was developed for accurate identification of individuals.To comprehensively evaluate the performance of the system,research was conducted on the overall coverage and balance,accuracy,sensitivity,repeatability,simulated degradation of samples,suitability of sample types,species specificity,mixed sample differentiation of the panel and so on.Results This system showed high coverage,uniformity and accuracy.when the input DNA was 0.062 5 ng,The system could detect more than 1 000 SNPs sites.And the system has a high detection efficiency for degradation test materials under the appropriate starting quantity.The repeatability between different personnel and different PCR instruments was 99.7%,indicating good repeatability.It is suitable for common forensic test materials,has high specificity,and has no spot detection for non-human samples in the test environment.When the gender ratio is 1∶20 or 20∶1,a single sample and mixed samples can still be distinguished.Conclusion The system has good classification accuracy and repeatability,with high sensitivity and high detection flux.It has strong detection ability for degraded and mixed samples,and can effectively eliminate interference from non-human species,improving individual recognition ability.
