Abstract:
:Short tandem repeat (STR) profiles from 32,671 individuals generated by the ABI Profiler Plus and Cofiler systems were screened for variant alleles not represented within manufacturer-provided allelic ladders. A total of 85 distinct variants were identified at 12 of the 13 CODIS loci, most of which involve a truncated tetranucleotide repeat unit. Twelve novel alleles, identified at D3S1358, FGA, D18S51, D5S818, D7S820 and TPOX, were confirmed by nucleotide sequence analysis and include both insertions and deletions involving the repeat units themselves as well as DNA flanking the repeat regions. Population genetic data were collected for all variants and frequencies range from 0.0003 (many single observations) to 0.0042 (D7S820 '10.3' in North American Hispanics). In total, the variant alleles identified in this study are carried by 1.6% of the estimated 1 million individuals tested annually in the U.S. for the purposes of parentage resolution. A paternity case involving a recombination event of paternal origin is presented and demonstrates how variant alleles can significantly strengthen the genetic evidence in troublesome cases. In such instances, increased costs and turnaround time associated with additional testing may be eliminated.
journal_name
J Forensic Scijournal_title
Journal of forensic sciencesauthors
Allor C,Einum DD,Scarpetta Mkeywords:
subject
Has Abstractpub_date
2005-09-01 00:00:00pages
1128-33issue
5eissn
0022-1198issn
1556-4029journal_volume
50pub_type
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journal_title:Journal of forensic sciences
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journal_title:Journal of forensic sciences
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journal_title:Journal of forensic sciences
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journal_title:Journal of forensic sciences
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journal_title:Journal of forensic sciences
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journal_title:Journal of forensic sciences
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