Frequency assessment of 25 SNPs in five different populations.

Allele and genotype frequencies of 25 SNPs previously selected and validated for forensic purposes were assessed in 250 unrelated individuals originating from five different countries of Europe (Spain, Croatia, Bulgaria, Turkey and Serbia). All the SNPs generated extremely low F(st) values confirming our previous results on Italian, African (Benin) and Asian (Mongolian) populations. As a consequence of such F(st) values we observed similar values of random match probability across the populations: 2.

Typing of ARMS2 and CFH in age-related macular degeneration: case-control study and assessment of frequency in the Italian population.

Objectives: To determine the effects of the polymorphisms CFH Tyr402His and ARMS2 del443ins54 on susceptibility to age-related macular degeneration (AMD) and to find the frequencies of these single-nucleotide polymorphisms in an Italian population that was not examined clinically.

Methods: A total of 286 control subjects (126 men and 160 women) and 159 white patients (73 men and 86 women) harboring exudative AMD in 1 eye were recruited. A third group of 182 DNA samples from blood donors of the same geographical areas were also typed to assess the frequency of CFH Tyr402His and ARMS2 del443ins54 polymorphisms in the general population.

Haplotypes in SLC24A5 Gene as Ancestry Informative Markers in Different Populations.

Ancestry informative markers (AIMs) are human polymorphisms that exhibit substantially allele frequency differences among populations. These markers can be useful to provide information about ancestry of samples which may be useful in predicting a perpetrator's ethnic origin to aid criminal investigations. Variations in human pigmentation are the most obvious phenotypes to distinguish individuals.

Whole genome amplification and real-time PCR in forensic casework.

Background: WGA (Whole Genome Amplification) in forensic genetics can eliminate the technical limitations arising from low amounts of genomic DNA (gDNA). However, it has not been used to date because any amplification bias generated may complicate the interpretation of results. Our aim in this paper was to assess the applicability of MDA to forensic SNP genotyping by performing a comparative analysis of genomic and amplified DNA samples.

Frequency assessment of SNPs for forensic identification in different populations.

Allele frequencies for 16 previously described autosomal SNPs were tested in 1020 unrelated individuals originating from three different continents (Africa, Asia and Europe). The populations analyzed included Africans from Benin Gulf (180), Asians from Mongolia (160) and Europeans from Italy (680).

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.