Analysis of mutation rates and haplotypes of 23 Y-chromosomal STRs in Korean father-son pairs

Dong Gyu Lee; Su Jin Kim; Woo-Cheol Cho; Yoonjung Cho; Ji Hwan Park; Jinmyung Lee; Ju Yeon Jung

doi:10.1016/j.fsigen.2023.102875

Analysis of mutation rates and haplotypes of 23 Y-chromosomal STRs in Korean father-son pairs

Forensic Sci Int Genet. 2023 Jul:65:102875. doi: 10.1016/j.fsigen.2023.102875. Epub 2023 Apr 17.

Authors

Dong Gyu Lee¹, Su Jin Kim², Woo-Cheol Cho², Yoonjung Cho², Ji Hwan Park², Jinmyung Lee³, Ju Yeon Jung⁴

Affiliations

¹ Forensic DNA Division, National Forensic Service, Wonju, South Korea; Department of forensics Sciences, Sungkyunkwan University, Suwon, South Korea.
² Forensic DNA Division, National Forensic Service, Wonju, South Korea.
³ DNA Analysis Division, National Forensic Service Busan Institute, Busan, South Korea.
⁴ Forensic DNA Section, National Forensic Service Jeju Branch, Jeju, South Korea; Department of Forensic Medicine, Seoul National University College of Medicine, Seoul, South Korea. Electronic address: jjy7@korea.kr.

PMID: 37084624
DOI: 10.1016/j.fsigen.2023.102875

Abstract

Y-chromosomal short tandem repeats (Y-STRs) have been widely used in forensic genetics, and accurate knowledge of mutation rates at Y-STR loci is essential in kinship analysis. The main aim of this study was to estimate Y-STR mutation rates in Korean males. To obtain locus-specific mutations and haplotypes at 23 Y-STRs, we analyzed samples from 620 Korean father-son pairs. In addition, we also analyzed 476 unrelated individuals using the PowerPlex® Y23 System, with the aim of augmenting the available data for the Korean population. The PowerPlex® Y23 system facilitates analysis of the 23 Y-STR loci (DYS576, DYS570, DYS458, DYS635, DYS389 II, DYS549, DYS385, DYS481, DYS439, DYS456, DYS389 I, DYS19, DYS393, DYS391, DYS533, DYS437, DYS390, Y GATA H4, DYS448, DYS438, DYS392, and DYS643). Locus-specific mutation rate estimates varied from 0.00 to 8.06 × 10^-3 per generation, with an average mutation rate of 2.17 × 10^-3 (95% CI, 1.5-3.1 × 10^-3). To obtain comprehensive genetic values for the Korean population, we combined data obtained in this study with previously reported values, thereby enabling us to estimate the locus-specific mutation rates regarding 22,711 allele transmissions. By combining these data, we obtained an overall average mutation rate of 2.91 × 10^-3 (95% CI, 2.3-3.7 × 10^-3). In addition, among the 476 unrelated Korean males, we detected 467 different haplotypes, with an overall haplotype diversity value of 0.9999. By extracting haplotypes of Y-STRs described in previous literature on 23 Y-STR reported in Korea, we obtained gene diversities for 1133 Korean individuals. We believe that the values and characteristics of the 23 Y-STRs analyzed in this study will contribute to establishing criteria for forensic genetic interpretation, including kinship analysis.

Keywords: Forensic analysis; Gene diversity; Haplotype diversity; Korean; Mutation rate; Y-chromosomal short tandem repeat.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Chromosomes, Human, Y
DNA Fingerprinting
Fathers
Genetics, Population
Haplotypes
Humans
Male
Microsatellite Repeats
Mutation Rate*
Nuclear Family*
Republic of Korea