eISSN: 1689-1716
ISSN: 0324-8267
Archiwum Medycyny Sądowej i Kryminologii/Archives of Forensic Medicine and Criminology
Current issue Archive Manuscripts accepted About the journal Supplements Editorial board Reviewers Abstracting and indexing Subscription Contact Instructions for authors Ethical standards and procedures
SCImago Journal & Country Rank
3/2017
vol. 67
 
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abstract:
Short report

SNPs and STRs in forensic medicine. A strategy for kinship evaluation

Lurdes Pontes
1, 2
,
José Carneiro de Sousa
1, 3
,
Rui Medeiros
3, 4, 5

  1. National Institute of Legal Medicine and Forensic Sciences, IP, North Delegation, Portugal
  2. CENCIFOR – Forensic Science Center, Portugal
  3. ICBAS, Abel Salazar Institute for the Biomedical Sciences, University of Porto, Portugal
  4. Molecular Oncology Group, Portuguese Institute of Oncology, Porto, Portugal
  5. LPCC, Research Department-Portuguese League Against Cancer (NRNorte), Porto, Portugal
Arch Med Sadowej Kryminol 2017; 67 (3): 226-240
Online publish date: 2018/02/15
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Some emerging technologies are used as strategies for the analyses of single nucleotide polymorphisms (SNPs) that have attracted much interest in recent years, applied to various scientific areas. They have been extensively used as markers to identify genes that underlie complex diseases and also to realize the potential of pharmacogenomics in relation to different drug responses. Additionally, SNPs have been shown to be very useful in forensic genetics resolving all kinds of legal problems, namely crime cases, disaster victim identification and paternity and kinship investigation testing. The low mutation rate of SNPs, makes these markers very suitable for relationship testing. In the great majority of the cases, analyses with the widely used sets of STR markers provide powerful statistical evidence but some of them remain with ambiguous results. Those include cases with complex pedigrees or cases with some problems, like mutations, that are inherent to the use of STRs. At this time several forensic laboratories are using SNPs especially to complement the study of STRs in some of their casework cases. This paper intends to analyze some of our casework examples and to providea data update on the joint use of STRs and autosomal SNPs in the evaluation and kinship calculation, one of the strategies currently used for this purpose, namely reviewing and comparing results published by various working groups.
keywords:

legal medicine, forensic genetics, human identification, single nucleotide polymorphisms, SNPforID, mutation

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