In silico and in vitro comparative analysis to select, validate and test SNPs for human identification.
BACKGROUND
The recent advances in human genetics have recently provided new insights into phenotypic variation and genome variability. Current forensic DNA techniques involve the search for genetic similarities and differences between biological samples. Consequently the selection of ideal genomic biomarkers for human identification is crucial in order to ensure the highest stability and reproducibility of results.


RESULTS
In the present study, we selected and validated 24 SNPs which are useful in human identification in 1,040 unrelated samples originating from three different populations (Italian, Benin Gulf and Mongolian). A Rigorous in silico selection of these markers provided a list of SNPs with very constant frequencies across the populations tested as demonstrated by the Fst values. Furthermore, these SNPs also showed a high specificity for the human genome (only 5 SNPs gave positive results when amplified in non-human DNA).


CONCLUSIONS
Comparison between in silico and in vitro analysis showed that current SNPs databases can efficiently improve and facilitate the selection of markers because most of the analyses performed (Fst, r2, heterozigosity) in more than 1,000 samples confirmed available population data.
Giardina
Emiliano
E
Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, Tor Vergata University of Rome, Italy. emiliano.giardina@uniroma2.it
Pietrangeli
Ilenia
I
Martone
Claudia
C
Asili
Paola
P
Predazzi
Irene
I
Marsala
Patrizio
P
Gabriele
Luciano
L
Pipolo
Claudio
C
Ricci
Omero
O
Solla
Gianluca
G
Sineo
Luca
L
Spinella
Aldo
A
Novelli
Giuseppe
G
D000349:Africa; D001208:Asia; D002874:Chromosome Mapping; D019295:Computational Biology / Q000379:methods*; D005060:Europe; D018732:Forensic Anthropology / Q000379:methods*; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA / Q000379:methods*