STR haplotypes of the Y chromosome are widely used as effective genetic markers in studies of human populations and in forensic DNA analysis. The task often arises to compare the spectrum of haplotypes in individuals or entire populations. Performing this task manually is too laborious and thus unrealistic. We propose an algorithm for counting similarity between STR haplotypes. This algorithm is suitable for massive analyses of samples. It is implemented in the computer program Haplomatch, which makes it possible to find haplotypes that differ from the target haplotype by 0, 1, 2, 3, or more mutational steps. The program may operate in two modes: comparison of individuals and comparison of populations. Flexibility of the program (the possibility of using any external database), its usability (MS Excel spreadsheets are used), and the capability of being applied to other chromosomes and other species could make this software a new useful tool in population genetics and forensic and genealogical studies. The Haplomatch software is freely available on our website www.genofond.ru. The program is applied to studying the gene pool of Cossacks. Experimental analysis of Y-chromosomal diversity in a representative set (N = 131) of Upper Don Cossacks is performed. Analysis of the STR haplotypes detects genetic proximity of Cossacks to East Slavic populations (in particular, to Southern and Central Russians, as well as to Ukrainians), which confirms the hypothesis of the origin of the Cossacks mainly due to immigration from Russia and Ukraine. Also, a small genetic influence of Turkicspeaking Nogais is found, probably caused by their occurrence in the Don Voisko as part of the Tatar layer. No similarities between haplotype spectra of Cossacks and Caucasus populations are found. This case study demonstrates the effectiveness of the Haplomatch software in analyzing large sets of STR haplotypes.
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Forensic Sci Int Genet
January 2025
Forensic DNA Division, National Forensic Service, Wonju, South Korea. Electronic address:
Y-chromosomal short tandem repeats (Y-STRs) at rapidly mutating (RM) loci have been suggested as tools for differentiating paternally related males. RMplex is a recently developed system that incorporates 26 RM loci and four fast-mutating (FM) loci, targeting 44 male-specific loci. Here, we evaluated the RMplex by estimating Y-STR mutation rates and the overall differentiation rates for 542 Korean father-son pairs, as well as the genetic population values for 409 unrelated males.
View Article and Find Full Text PDFInt J Legal Med
January 2025
Bioinformatics and Evolutionary Biology Laboratory, Department of Genetics, Federal University of Pernambuco, Av. Professor Moraes Rego, Recife, PE, 50670-901, Brazil.
Genetic markers of the Y chromosome are powerful tools for investigating paternal ancestry and are widely used in population and forensic genetics. However, in order to obtain statistics with a higher degree of certainty using these markers, it is necessary to obtain haplotypic frequencies from a representative database, as well as knowing the diversity and structure of the population. The aim of this study was to investigate the genetic diversity of a sample of 1114 unrelated men from three states in the Northeast of Brazil: Paraíba, Pernambuco and Ceará, through the analysis of 23 Y-STRs and to contribute to the expansion of the Brazilian database on these markers.
View Article and Find Full Text PDFInt J Legal Med
January 2025
Institute of Forensic and Anthropological Science, Seoul National University Medical Research Center, 103 Daehak-ro, Jongno-gu, Seoul, 03080, Republic of Korea.
Inferring the ancestral origin of DNA evidence recovered from crime scenes is crucial in forensic investigations, especially in the absence of a direct suspect match. Ancestry informative markers (AIMs) have been widely researched and commercially developed into panels targeting multiple continental regions. However, existing forensic ancestry inference panels typically group East Asian individuals into a homogenous category without further differentiation.
View Article and Find Full Text PDFGenes (Basel)
December 2024
Institute of Legal Medicine, Hannover Medical School, Carl-Neuberg-Str. 1, 30625 Hannover, Germany.
Background: Sudden infant death syndrome (SIDS) is the leading cause of death among infants aged between one month and one year. Altered enzyme activities or expression of acetylcholinesterase (AChE) and butyrylcholinesterase (BChE) have been observed in SIDS patients that might lead to disturbed autonomic function and, together with other risk factors, might trigger SIDS. To explore the contribution of AChE and BChE from a genomic viewpoint, we sought to investigate the association between SIDS and selected single nucleotide polymorphisms (SNPs) in the and genes.
View Article and Find Full Text PDFGenes (Basel)
December 2024
Dipartimento di Scienze Linguistiche e Letterature Straniere, Università Cattolica del Sacro Cuore, Largo Gemelli 1, 20123 Milan, Italy.
Eastern Finnic populations, including Karelians, Veps, Votes, Ingrians, and Ingrian Finns, are a significant component of the history of Finnic populations, which have developed over ~3 kya. Yet, these groups remain understudied from a genetic point of view. In this work, we explore the gene pools of Karelians (Northern, Tver, Ludic, and Livvi), Veps, Ingrians, Votes, and Ingrian Finns using Y-chromosome markers (N = 357) and genome-wide autosomes (N = 67) and in comparison with selected Russians populations of the area (N = 763).
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