Establishment of a 103-plex InDel-SNP composite markers detection system based on a next generation sequencing platform
10.13618/j.issn.1001-5728.2025.01.014
- VernacularTitle:基于二代测序平台的103-plex InDel-SNP复合标记检测体系的建立
- Author:
Chengwen YANG
1
;
Xin XU
1
;
Xinjie WANG
1
Author Information
1. 潍坊市公安局,山东 潍坊 261061
- Publication Type:Journal Article
- Keywords:
Forensic biological evidence;
Next generation sequencing;
InDel-SNP composite markers;
Genetic polymorphism
- From:
Chinese Journal of Forensic Medicine
2025;40(1):75-82
- CountryChina
- Language:Chinese
-
Abstract:
Objective To establish a 103-plex InDel-SNP composite marker amplification system based on Ion Torrent PGM/S5 sequencing platform targeting fragment length less than 175bp,providing an efficient analytical tool for forensic individual identification and paternity identification.Methods Using the human genome GRCh38 as the reference sequence,InDel-SNP composite marker loci suitable for Chinese population were screened from 22 pairs of autosomes and sex chromosomes by using dbSNP database with East Asian population as the target population.Population genetic data of 267 unrelated individuals of Han nationality in Shandong province were investigated,and genetic relationship was verified using 16 real triplet families.Results The 103-plex InDel-SNP composite marker detection system developed in this study,based on the second-generation sequencing platform,exhibits notable features including high sensitivity,excellent stability,strong specificity,and wide applicability to conventional test materials.It effectively enables the determination of typing results for degraded and mixed samples.Conclusion All 16 parent triplet pairs demonstrated adherence to Mendelian inheritance law without any observed allelic dropout or mutation.This detection system holds significant value for forensic individual identification and paternity testing.