Consistency of cSNP genotyping between DNA and RNA using next-generation sequencing
10.13618/j.issn.1001-5728.2025.03.006
- VernacularTitle:基于MiSeq FGx平台的DNA和RNA水平cSNP分型结果一致性研究
- Author:
Danni LOU
1
;
Yixia ZHAO
;
Lei MIAO
;
Jie ZHAO
;
Chi ZHANG
;
Kelai KANG
;
Sheng HU
;
Jian YE
;
Le WANG
Author Information
1. 山西医科大学法医学院,山西晋中 030600;法医遗传学公安部重点实验室,公安部鉴定中心,北京 100038
- Publication Type:Journal Article
- Keywords:
Forensic genetics;
Body fluid identification;
Next-generation sequencing;
Coding region single nucleotide polymorphism
- From:
Chinese Journal of Forensic Medicine
2025;40(3):295-301,307
- CountryChina
- Language:Chinese
-
Abstract:
Objective To evaluate the consistency of DNA coding region single nucleotide polymorphism(cSNP)genotyping at the DNA and RNA levels in common body fluid samples based on the next-generation sequencing platform.Methods After extensive literature retrieval,25 cSNP loci of 8 human tissue-specific mRNAs in peripheral blood,semen and vaginal secretion were selected.Two cSNP multiplex genotyping panels based on DNA and RNA,respectively,were developed for use on the MiSeq FGx sequencing platform.45 body fluid samples(including 14 peripheral blood samples,15 semen samples and 16 vaginal secretion samples)were sequenced and analyzed.The inconsistent typing results of DNA and RNA were rechecked by Sanger sequencing.Results The results of cSNP genotyping at the DNA and RNA levels in peripheral blood were completely consistent.Among the 15 semen samples,the genotypes of rs1995640 and rs 1995641 on the TGM4 gene were inconsistent in 3 cases.Among the 16 vaginal secretion samples,there were 2 cases,1 case and 2 case with inconsistent results of rs3869098,rs10947121 and rs12110470 in MUC22 gene,respectively.Conclusion In this study,MiSeq FGx sequencing and Sanger sequencing were used to test 25 cSNP loci with body fluid tissue specificity.The same typing results at the DNA and RNA levels were observed at 20 cSNPs.Inconsistent genotypes at the DNA and RNA levels were observed at 5 cSNPs on the TGM4 and MUC22 genes.This study provides experimental methods and data for forensic cSNP studies.
