잠시만 기다려 주세요. 로딩중입니다.

Massively parallel sequencing of 25 short tandem repeat loci including the SE33 marker in Koreans

Genes & Genomics 2021년 43권 2호 p.133 ~ 140
이자현, 김정용, 김효정, 김효숙, 김응수,
소속 상세정보
이자현 ( Lee Ja-Hyun ) - National Forensic Service Forensic DNA Division
김정용 ( Kim Jeong-Yong ) - National Forensic Service Forensic DNA Division
김효정 ( Kim Hyo-Jeong ) - National Forensic Service Forensic DNA Division
김효숙 ( Kim Hyo-Sook ) - National Forensic Service Forensic DNA Division
김응수 ( Kim Eung-Soo ) - National Forensic Service Seoul Institute DNA Analysis Division

Abstract


Background: Massively parallel sequencing (MPS) technology has recently been introduced in research, clinical diagnostics, and forensics. MPS enables determination of the genotypes of multiple short tandem repeat (STR) markers and to determine nucleotide sequence variations, additionally.

Objective: To improve STR analysis and a paternity index, a new, smaller-sized STR panel was designed that includes the SE33 locus.

Methods: This study performed MPS using an STR panel including the SE33 marker in 101 Koreans. The concordance study was conducted by comparing the data obtained from the MPS assay with the results of a capillary electrophoresis (CE)-based method.

Results: In this study, an in-house MPS panel is designed that incorporates the 20 Combined DNA Index System (CODIS) loci and the Penta D, Penta E, and SE33 markers for enhanced discriminatory ability. The data obtained via MPS analysis were compared with CE data to confirm concordance. Fifty previously unreported alleles were detected through the MPS analysis. Three new SNP variations in the flanking region were also identified. Statistical analysis demonstrated that the SE33 marker was most effectively determined the match probability (PM) and typical paternity index (TPI). In the sensitivity study, concentrations as low as 80 pg could be used to obtain full and concordant profiles.

Conclusions: We designed a new, smaller-sized STR panel that includes the SE33 locus to improve STR analysis and the paternity index. Various new alleles were identified in SE33, indicating a high degree of polymorphism. The panel is expected to provide valid data for discrimination of unidentified bodies.

키워드

Massively parallel sequencing (MPS); Short tandem repeat (STR); Forensic; Human identification; Matching probability; SE33 locus

원문 및 링크아웃 정보

등재저널 정보