Mutation analysis for newly suggested 30 Y-STR loci with high mutation rates in Chinese father-son pairs

Abstract

Rapidly mutating Y-STRs (RM Y-STRs) harbor great potential to distinguish male relatives and achieve male identification. However, forensic applications were greatly limited by the small number of the initially identified 14 RM Y-STRs. Recently, with the emergence of 12 novel RM Y-STRs, an integrated panel named RMplex was introduced, which contains all 26 RM Y-STRs and four fast mutating Y-STRs (FM Y-STRs). To obtain the first data on the mutation rates and father-son differentiation rates of the 30 newly proposed Y-STRs in Chinese populations, we performed an empirical mutation study on 307 DNA-confirmed Chinese paternal pairs. Previously reported mutation rates for 14 RM Y-STRs in Chinese and European populations were pooled and merged with our data. The highest meiosis number for the two groups reached 4771 and 2687, respectively. Five loci showed significant differences between the populations (DYS570, DYS399S1, DYS547, DYS612, and DYF403S1b). For the new panel covering 30 Y-STR loci, our results show extensive differences in the mutation rates between the two populations, as well. 10 RM Y-STR loci showed relatively low mutation rates (10–3–10–2 per meiosis) and 2 FM Y-STR loci had rapid mutation rates (> 10–2 per meiosis) in the Chinese population. Several-fold differences in mutation rates were found in nine Y-STR loci between the Chinese and reference populations, with two loci having significantly higher mutation rates and one locus with a significantly lower mutation rate in the Chinese population (P < 0.05). Eighteen RM Y-STRs (> 10–2 per meiosis), 8 FM Y-STR loci (5×10–3-10–2 per meiosis), 3 moderately mutating Y-STRs (MM Y-STRs, 10–3-5×10–3 per meiosis), and one locus with no observed mutation events were identified in the Chinese population. 40.06% of the Chinese paternity pairs were discriminated with RMplex while only 20.84% with the initial 14 RM Y-STRs, indicating that RMplex is beneficial for distinguishing paternally related males. Future studies on populations of different genetic backgrounds are necessary to obtain comprehensive estimates of mutation rates at these new loci.

Measuring Vascular Graft Cellularity Non‐Destructively: Merging Magnetic Resonance Imaging and Tissue Engineering

“…Tractography has previously been shown to be a useful visualisation tool when it comes to crude and specific microstructural changes in healthy and diseased arterial tissue. [ 53,85,86 ] While it is clinically used in the brain, [ 83 ] DTI tractography has also been shown clinically to have sensitivity to pathological processes in the spinal cord [ 87 ] and results from the current study further its potential use to the field of tissue engineering.…”

“…[52] Glioma cells migrate along white fiber bundles in the brain, and when these are disrupted due to erosion, destruction, impingement, and peritumoral edema in tumor progression, the disordered microstructure is identifiable by decreased FA. [83,84] It is interesting to note the decreasing FA and increasing MD in acellular controls alongside less coherent tractography. Over a two-week period in culture medium, at 37 °C, and on a dynamic roller, it would not be surprising to have tissue degradation.…”

“…[ 52 ] Glioma cells migrate along white fiber bundles in the brain, and when these are disrupted due to erosion, destruction, impingement, and peritumoral edema in tumor progression, the disordered microstructure is identifiable by decreased FA. [ 83,84 ]…”

Bibliometric analysis of kinship analysis from 1960 to 2023: global trends and development

“…In contrast to autosomal STR, Y-STR profiling can trace distant relatives and circumvent the potential sharing of autosomal alleles between victim and perpetrator in sexual assault cases ( Kayser, 2017 ). Moreover, rapidly mutating (RM) Y-STRs have been reported to be able to successfully differentiate between close and distant male relatives ( Ballantyne et al, 2012 ; Ralf et al, 2020 ; Ralf et al, 2021 ; Wang F. et al, 2022 ). Due to the higher mutation rate of RM Y-STRs in comparison to standard Y-STRs, they significantly enhance the differentiation among male relatives within the same paternal lineage ( Wang F. et al, 2022 ).…”

Male Pedigree Toolbox: A Versatile Software for Y-STR Data Analyses

“…Many studies on determining Y-STR mutation rates focused on father-son pairs [12][13][14][15], as this is considered the best approach for obtaining accurate mutation rate estimates for Y-STRs, as long as the number of pairs is large enough. However, large father-son pair studies are labor and resource intensive, as for every genetic transfer (meiosis) tested, two DNA samples need to be analyzed.…”