0000000000785404
AUTHOR
Chiara Gelardi
Characterization of mutations and sequence variations in complex STR loci by second generation sequencing
Abstract We used second generation sequencing (SGS) to examine sequence variation and mutational patterns in complex STR loci in Danish paternity cases. Four STR loci, D2S1338, D3S1358, D12S391 and D21S11, were sequenced in 45 samples from 15 confirmed trios with genetic inconsistencies between one of the parents and the child in either the D2S1338 or the D3S1358 loci. In 12 of the 15 cases, SGS revealed the allele that had mutated from the parent. In total, 61 different alleles were found in the 30 unrelated individuals. The highest variation was observed in the D12S391 locus and the lowest one in the D3S1358 locus. The four STR loci are good candidate loci for future SGS kits for forensic…
Second generation sequencing of three STRs D3S1358, D12S391 and D21S11 in Danes and a new nomenclature for sequenced STR alleles
Second generation sequencing (SGS) may revolutionize the field of forensic STR typing. Two of the essential requirements for implementation of an SGS based approach for forensic investigations are (1) establishment of adequate frequency databases and (2) adoption of a new STR nomenclature. We report the STR sequences and allele frequencies of three STR loci: D3S1358, D12S391 and D21S11 in 197 unrelated Danes. We used a new STR nomenclature that depicts the locus name used in forensic genetics, the length of the repeat region divided by the repeat length (typically 4 nucleotides) and detailed sequence information of possible sub-repeats and SNPs within the amplified fragment.