Validation of a 21-locus autosomal SNP multiplex for forensic identification purposes

Dixon, Lindsey; Murray, CS; Archer, Emily; Dobbins, A.E.; Koumi, P.; Gill, Peter

doi:10.1016/j.forsciint.2004.12.011

Cited by 95 publications

(60 citation statements)

References 29 publications

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“…Such results from challenging DNA emphasize the importance of methodologies using reduced amplicon sizes to analyze severely degraded DNA, in line with success rates observed for other short-amplicon genotyping approaches based on SNPs or miniSTRs (e.g. [11,13,24,25]). …”

Section: Multiplex Performancesupporting

confidence: 57%

A new multiplex for human identification using insertion/deletion polymorphisms

et al. 2009

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Human identification is usually based on the study of STRs or SNPs depending on the particular characteristics of the investigation. However, other types of genetic variation such as insertion/deletion polymorphisms (indels) have considerable potential in the field of identification, since they can combine the desirable characteristics of both STRs and SNPs. In this study, a set of 38 non-coding bi-allelic autosomal indels reported to be polymorphic in African, European, and Asian populations were selected. We developed a sensitive genotyping assay, which is able to characterize all 38 bi-allelic markers using a single multiplex PCR and detected with standard CE analyzers. Amplicon length was designed to be shorter than 160 bp. Complete profiles were obtained using 0.3 ng of DNA, and full genotyping of degraded samples was possible in cases where standard STR typing had partially failed. A total of 306 individuals from Angola, Mozambique, Portugal, Macau, and Taiwan were studied and population data are presented. All indels were polymorphic in the three population groups studied and the random match probabilities of the set ranged in orders of magnitude from 10(-14) to 10(-15). Therefore, the indel-plex represents a valuable approach in human identification studies, especially in challenging DNA cases, as a more straightforward and efficient alternative to SNP typing.

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Section: Multiplex Performancesupporting

confidence: 57%

A new multiplex for human identification using insertion/deletion polymorphisms

et al. 2009

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“…Until now, only a few large multiplexes have been reported [26], but larger multiplexes that are constructed based on the same principles as the present 52-plex are emerging, e.g. packages with Y chromosome SNPs [15,27] Furthermore, we are also implementing the 52-plex into alternative MALDI-TOF-based assays [28], conventional microarrays and oligonucleotide ligation-based assays.…”

Section: Discussionmentioning

confidence: 96%

A multiplex assay with 52 single nucleotide polymorphisms for human identification

et al. 2006

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A total of 52 SNPs reported to be polymorphic in European, Asian and African populations were selected. Of these, 42 were from the distal regions of each autosome (except chromosome 19). Nearly all selected SNPs were located at least 100 kb distant from known genes and commonly used STRs. We established a highly sensitive and reproducible SNP-typing method with amplification of all 52 DNA fragments in one PCR reaction followed by detection of the SNPs with two single base extension reactions analysed using CE. The amplicons ranged from 59 to 115 bp in length. Complete SNP profiles were obtained from 500 pg DNA. The 52 loci were efficiently amplified from degraded samples where previously only partial STR profiles had been obtained. A total of 700 individuals from Denmark, Greenland, Somalia, Turkey, China, Germany, Taiwan, Thailand and Japan were typed, and the allele frequencies estimated. All 52 SNPs were polymorphic in the three major population groups. The mean match probability was at least 5.0 x 10(-19) in the populations studied. Typical paternity indices ranged from 336 000 in Asians to 549 000 in Europeans. Details of the 52 SNP loci and population data generated in this work are freely available at http://www.snpforid.org.

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“…These loci are highly polymorphic, localized in non-coding regions which are on different chromosomes. As an improvement in their efficiency, the new multiplexes that amplify 16 loci or more, in a single reaction (including amelogenin too), have been introduced in the last years [15]. The most common STR kits used in the forensic laboratories for the identification are manufactured by three companies: Life Technologies, Promega and Qiagen.…”

Section: Autosomal Str Profilingmentioning

confidence: 99%

Molecular Genetics and its Applications in Forensic Sciences

Dumache¹,

Ciocan²,

Muresan³

et al. 2016

Forensic Analysis - From Death to Justice

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The way to medico legal identification was open at the end of the twenty-first century by the "digital fingerprinting" represented by the multifactorial phenotypical trait, determined by both polygenic and environmental factors, followed by group-specific antigens, or with specificity for blood and tissue, and ending with the DNA molecule in use today. Because of this aspect, the framework of modern forensic medicine includes a new field, that of forensic genetics, that mostly involves working with investigations that have human genotype identification as a goal.

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Validation of a 21-locus autosomal SNP multiplex for forensic identification purposes

Cited by 95 publications

References 29 publications

A new multiplex for human identification using insertion/deletion polymorphisms

A new multiplex for human identification using insertion/deletion polymorphisms

A multiplex assay with 52 single nucleotide polymorphisms for human identification

Molecular Genetics and its Applications in Forensic Sciences

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