Mutational data and population profiling of 23 Y-STRs in three Brazilian populations

Ambrósio, Isabela Brunelli; Braganholi, Danilo Faustino; Orlando, Larissa Barros Muniz; Andrekenas, Natalia Carolina; Pontes, Isabel da Mota; Silva, Dayse A.; Astolfi-Filho, Spártaco; Carvalho, E.F.; Cicarelli, Regina Maria Barretto; Gusmão, Leonor

doi:10.1016/j.fsigen.2020.102348

Cited by 10 publications

(2 citation statements)

References 44 publications

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“…These novel insights are expected to become highly relevant for future interpretation of Y-STR haplotypes derived from patrilineal relatives in all types of applications in anthropological studies, genealogical investigations and forensic casework. Previous studies mostly focused on less Y-STRs and only used close relatives such as father–sons and brothers, or only on a limited number of relatives separated by more generations (Adnan et al 2016 ; Ambrosio et al 2020 ; Ballantyne et al 2012 , 2014 ; Boattini et al 2016 ; Javed et al 2018 ; Neuhuber et al 2022 ; Yuan et al 2019 ; Zgonjanin et al 2017 ).…”

Section: Discussionmentioning

confidence: 99%

Large-scale pedigree analysis highlights rapidly mutating Y-chromosomal short tandem repeats for differentiating patrilineal relatives and predicting their degrees of consanguinity

et al. 2022

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Rapidly mutating Y-chromosomal short tandem repeats (RM Y-STRs) were suggested for differentiating patrilineally related men as relevant in forensic genetics, anthropological genetics, and genetic genealogy. Empirical data are available for closely related males, while differentiation rates for more distant relatives are scarce. Available RM Y-STR mutation rate estimates are typically based on father–son pair data, while pedigree-based studies for efficient analysis requiring less samples are rare. Here, we present a large-scale pedigree analysis in 9379 pairs of men separated by 1–34 meioses on 30 Y-STRs with increased mutation rates including all known RM Y-STRs (RMplex). For comparison, part of the samples were genotyped at 25 standard Y-STRs mostly with moderate mutation rates (Yfiler Plus). For 43 of the 49 Y-STRs analyzed, pedigree-based mutation rates were similar to previous father–son based estimates, while for six markers significant differences were observed. Male relative differentiation rates from the 30 RMplex Y-STRs were 43%, 84%, 96%, 99%, and 100% for relatives separated by one, four, six, nine, and twelve meioses, respectively, which largely exceeded rates obtained by 25 standard Y-STRs. Machine learning based models for predicting the degree of patrilineal consanguinity yielded accurate and reasonably precise predictions when using RM Y-STRs. Fully matching haplotypes resulted in a 95% confidence interval of 1–6 meioses with RMplex compared to 1–25 with Yfiler Plus. Our comprehensive pedigree study demonstrates the value of RM Y-STRs for differentiating male relatives of various types, in many cases achieving individual identification, thereby overcoming the largest limitation of forensic Y-chromosome analysis.

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Section: Discussionmentioning

confidence: 99%

Large-scale pedigree analysis highlights rapidly mutating Y-chromosomal short tandem repeats for differentiating patrilineal relatives and predicting their degrees of consanguinity

et al. 2022

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“…[6,7]. The PowerPlex ® Y23 Kit has been widely used in the analysis of population data and the construction of Y-STR databases, including different ethnic populations in many countries, such as China [8], The United Kingdom [9], Brazil [10], Serbia [11], and so on. The Microreader™24Y Direct ID System includes all 23 Y-STR markers of the PowerPlex Y23 system and another DYS460 locus, i.e., 24 Y-STR loci in total.…”

Section: Introductionmentioning

confidence: 99%

Genetic Polymorphism Analysis of 24 Y-STRs in a Han Chinese Population in Luzhou, Southwest China

Fu,

Song,

Qian

et al. 2023

Genes

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Han is the largest of China’s 56 ethnic groups and the most populous ethnic group in the world. The Luzhou region is located in southwest China, at the junction of three provinces. The unique historical factors contribute to the genetic polymorphism information. Short tandem repeats (STRs) are highly polymorphic, but the polymorphism of the Y chromosomal STRs (Y-STRs) loci in the Luzhou region is still unclear. It is of great significance to provide Y-STRs genetic data for the Han population from the Luzhou areas of southwest China. A total of 910 unrelated male individuals of the Han population from the Luzhou area were recruited, and 24 Y-STRs were analyzed. The population structure and phylogenetic relationships were compared with those of another 11 related Han populations. A total of 893 different haplotypes were achieved from 910 samples, of which 877 (98.21%) haplotypes were unique. Haplotype diversity and discrimination were 0.999956 and 0.981319, respectively. The lowest genetic diversity of DYS437 is 0.4321, and the highest genetic diversity of DYS385a/b is 0.9642. Pair-to-pair genetic distance and relative probability values indicate that Luzhou Han people are close to Sichuan Han people, Guangdong Han people, and Hunan Han people, which is consistent with geographical distribution, historical influence, and economic development. The 24 Y-STR markers of the southwest Luzhou Han population were highly polymorphic, which provided us with genetic polymorphism information and enriched the population genetic database. Therefore, it is of great value to our forensic applications and population genetics research.

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Improving the differentiation of closely related males by RMplex analysis of 30 Y-STRs with high mutation rates

Neuhuber

Dunkelmann

Grießner

et al. 2022

Forensic Science International: Genetics

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Mutational data and population profiling of 23 Y-STRs in three Brazilian populations

Cited by 10 publications

References 44 publications

Large-scale pedigree analysis highlights rapidly mutating Y-chromosomal short tandem repeats for differentiating patrilineal relatives and predicting their degrees of consanguinity

Large-scale pedigree analysis highlights rapidly mutating Y-chromosomal short tandem repeats for differentiating patrilineal relatives and predicting their degrees of consanguinity

Genetic Polymorphism Analysis of 24 Y-STRs in a Han Chinese Population in Luzhou, Southwest China

Improving the differentiation of closely related males by RMplex analysis of 30 Y-STRs with high mutation rates

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