Sequencing of autosomal, mitochondrial and Y-chromosomal forensic markers in the People of the British Isles cohort detects population structure dominated by patrilineages

• DOI: 10.1016/j.fsigen.2022.102725
• Publication Date: 2022-05-18T16:06:47Z
• Authors: Tunde I. Huszar; Walter F. Bodmer; Katarzyna Hutnik; Jon H. Wetton; Mark A. Jobling
• Keywords: Haplogroup; Identity by descent; mtDNA control region

Short tandem repeat (STR) polymorphisms are traditionally assessed by measuring allele lengths via capillary electrophoresis (CE). Massively parallel sequencing (MPS) reveals differences among alleles of the same length, thus improving discrimination, but also identifying groups likely related descent. These may have relatively restricted geographical distributions and MPS could detect population structure more effectively than CE-based analysis. We addressed this question applying an multiplex, Promega PowerSeq™ Auto/Mito/Y System prototype, to 362 individuals chosen represent a wide spread from People British Isles (PoBI) cohort, which represents at least three generations local rural ancestry. As well as 22 autosomal STRs (aSTRs; equivalent PowerPlex Fusion loci) system sequences 23 Y-STRs (the PowerPlexY control region (CR) mitochondrial DNA (mtDNA), allowing be compared across biparentally uniparentally inherited segments genome. For all loci, FST-based tests were done based on historical, linguistic, partitions, for aSTRs clustering algorithm STRUCTURE was applied. considered using both length sequence. Sequencing increased aSTR diversity 87.5% designations, reducing random match probability 1.25E-30, 6.72E-27. Significant detectable in just one pairwise comparison (Central/South East England rest), sequence-based only. The samples carried 308 distinct mtDNA CR haplotypes corresponding 13 broad haplogroups, representing haplotype 0.9985 ( ± 0.0005), 0.0043. No significant observed. Y-STR belonged ten predicted Y-haplogroups. Allele 33% when sequence rather level, although unchanged 0.999969 0.000001); 2.79E-03. In contrast maternally showed several levels, most markedly regions subject Anglo-Saxon influence east with rest sample. This evident length- no systematic difference between two. conclude that analysis or does not generally reveal stronger length-based analysis, UK maternal lineages significantly structured, reflect migrations Britain 6th century.