期刊
INTERNATIONAL JOURNAL OF LEGAL MEDICINE
卷 133, 期 6, 页码 1681-1689出版社
SPRINGER
DOI: 10.1007/s00414-019-02056-7
关键词
Forensic; Y-chromosome; haplotype; Rapidly mutating; Size homoplasy; Sequence variation
资金
- National Research Foundation of South Africa (NRF) (IFRR) [UID 104726, THRIP UID 80134]
- Technology Innovation Agency (TIA) Seed Fund Programme grant
- South African Medical Research Council (MRC) Research Development Grant
- South Africa Network for Bioscience (SANBio) BioFISAII [V6LFD03/11214/04400/044LP/FORENSIC_KIT]
- NRF
In forensic casework, Y-chromosome short tandem repeats (Y-STRs) are essential for differentiating between unrelated males and resolving the male component of admixed biological evidence. While the majority of Y-STRs are adequate for discriminating between different paternal lineages, rapidly mutating Y-STRs are necessary for improving discrimination between males within populations of low Y-chromosome diversity and between paternal relatives. Alternatively, sequencing of Y-STRs may also improve the discrimination between isometric Y-STR alleles by identifying variation in the repeat unit pattern arrangements and by identifying SNPs in the flanking region or within the STR repeat unit itself. In this report, a total of 153 DNA sequences are presented across the Y-STR loci DYS710, DYS518, DYS385, DYS644, DYS612, DYS626, DYS504, DYS481, DYS447 and DYS449. A total of 94 Y-STR sequences provided herein are reported for the first time, of which 37 sequences represent alleles showing size homoplasy, 34 sequences of known alleles for which sequence data has been unavailable and a total of 23 novel allele sequences across loci DYS644, DS447, DYS710 and DYS504. This study further encountered a rare sequence variant in the 5 ' flanking region of DYS385 and a total of two SNPs in the repeat structure at DYS481 and DYS449.
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