Sequence-based mutation patterns at 41 Y chromosomal STRs in 2548 father-son pairs

Abstract A total of 2548 unrelated healthy father-son pairs from a Northern Han Chinese population were genotyped at 41 Y-STRs including DYS19, DYS388, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS444, DYS447, DYS448, DYS449, DYS456, DYS458, DYS460, DYS481, DYS518, DYS522, DYS549, DYS533, DYS557, DYS570, DYS576, DYS593, DYS596, DYS627, DYS635, DYS643, DYS645, Y-GATA-H4, DYF387S1a/b, DYF404S1a/b, DYS385a/b and DYS527a/b. In father samples, 2387 unique haplotypes detected with the haplotype diversity (HD) discrimination capacity (DC) values 0.999956608 0.967410 07. The average gene (GD) value was 0.6934 range 0.1051 DYS645 to 0.9657 DYS385a/b. When comparing alleles 24 overlapped between ForenSeq™ DNA Signature Prep Kit on MiSeq FGx® Forensic Genomics System Goldeneye® ID Y Plus Applied Biosystems™ 3730 Analyzer 308 samples in mutational pairs, 258 by massively parallel sequencing (MPS) typing 156 length-based that could be obtained capillary electrophoresis (CE) typing, 95 repeat region (RR) variant 7 flanking (FR) alleles. Hereof, we found 16 novel RR firstly identified two SNPs (rs2016239814 DYS19 rs2089968964 DYS448) one 4-bp deletion (rs2053269960 DYS439) had been validated Database Short Genetic Variation (dbSNP). Sanger or MPS employed confirm 356 mutations 104 468 allele transfers generated CE, where 96.63% resulted one-step mutations, 2.25% two-step 1.12% multi-step, overall ratio gains versus losses balanced (173 v.s. 183 losses). 268 occurred single locus, 33 loci, 6 three loci 1 pair four loci. Y-STR mutation rate approximately 3.4 × 10?3 (95% CIs: 3.1 10?3–3.8 10?3). rates DYS576 DYS627 higher than 10?2 Chinese, while DYS518 DYS570 lower initially-defined. this study, classical molecular factors (the longer STR region, more complex motif order father) confirmed drive increased, but length unit did not conform convention. Lastly, interactive graphical installable StatsY developed facilitate forensic scientists automatically calculate frequencies, parameters Y-STRs.