N. Cerri

Allele sharing in first-degree and unrelated pairs of individuals in the Ge.F.I. AmpFlSTR® Profiler Plus™ database

Eleven Italian forensic laboratories participated in a population study based on the AB Profiler Plus loci with proficiency testing. The validated database, including 1340 individuals, is available on-line. Tests for Hardy-Weinberg equilibrium, gametic unbalance, and heterogeneity of gene frequency were generally not significant. Gene frequencies at each locus were consistent with those of two previously published Italian studies, but different from a third. Individuals of each subsample were paired, and the total number of alleles shared across the nine loci was determined in each pair. The analysis was replicated over the total sample. In addition, two samples of mother-child pairs (N=315) and full-sib pairs (N=91) were subjected to allele sharing analysis. The resulting distributions were sufficiently distinct from the sample of unrelated pairs as to be of practical usefulness.

Population data for 12 Y-chromosome STRs in a sample from Brescia (northern Italy)

Twelve Y-chromosome STRs--DYS19, DYS389-I, DYS389-II, DYS390, DYS391, DYS392, DYS393, DYS385, DYS437, DYS438, DYS439--were typed in a population sample (n=104) of unrelated males from Brescia (northern Italy). A total of 91 haplotypes were identified by the 12 Y-STR loci. The haplotype diversity (98.68%), discrimination capacity (87.50%) and gene diversity were calculated.

Population data on 5 non-CODIS STR loci (D10S1248, D22S1045, D2S441, D1S1656, D12S391) in a population sample from Brescia county (Northern Italy)

Abstract Five autosomal STR loci (D10S1248, D22S1045, D2S441, D1S1656 and D12S391), unlinked to the core STR loci (non-CODIS loci), were typed in a population sample of 210 unrelated individuals from Brescia (Northern Italy). Allelic frequencies and statistical parameters of forensic interest were estimated. A comparison between our population data and others from Caucasian and Asian populations was performed.

Genetic variation at 5 new autosomal short tandem repeat markers (D10S1248, D22S1045, D2S441, D1S1656, D12S391) in a population-based sample from Maghreb region

Aim To investigate allele distribution and genetic parameters of a population-based sample from Maghreb region. Methods Allele frequencies for 5 new autosomal short tandem repeat (STR) markers (D10S1248, D22S1045, D2S441, D1S1656, and D12S391) and several forensic parameters were determined for 95 unrelated individuals. Results The combined power of discrimination and power of exclusion for the 5 loci were high (0.9999991 and 0.9954757, respectively). Allele frequencies were compared with previously published population data. Significant differences were found between Maghreb population and all other populations at the locus D2S441. Also, significant differences were found between the Maghreb and the African American population at the D22S1045, D1S1656, and D12S391 loci, between Maghreb and Caucasian population at the D1S1656 locus, and between Maghreb and Hispanic population at the D22S1045 locus. Conclusions Typing of the 5 new STR loci may provide a useful addition to the previously established sets of autosomal STRs.

Population data for 15 autosomal STRs loci and 12 Y chromosome STRs loci in a population sample from the Sardinia island (Italy).

One hundred twenty-five unrelated individuals (69 females and 56 males) from Sassari (Northern Sardinia) and Orgosolo (Central Sardinia) were typed for 15 STRs loci. The 56 males were typed for 12 Y chromosome STRs loci too. Frequency distribution is described.

Assigning individuals to ethnic groups based on 13 STR loci

Abstract Inferring the ethnic origin of individuals by means of short tandem repeat (STR) profiles has received considerable attention recently. Gene frequency variation among human populations has been extensively documented, and it has been suggested that the differences in allele proportions between ethnic groups could form the basis of an inferential system. We report the use of DNA profiles from 13 STR loci for inferring the ethnic origin of samples of unknown provenance using five populations of immigrants. This preliminary work shows that a population assignment test can be already used in real casework studies.

Typing of teeth with two different amplification systems

Abstract Two different automated procedures (capillary electrophoresis and infrared automated sequencer) for STR analysis on DNA obtained from highly degraded teeth were compared. Even with these two automatic protocols, negative or not much informative results were obtained. Our results confirm that in extreme conditions, it is necessary to perform more sensitive analysis (i.e. SNPs, mt-DNA) to obtain informative genetic profiles.

Italian population data on the loci MR, GYPA, HBGG, D7S8 and GC

Allele and genotype frequencies for the five loci LDLR, GYPA, HBGG, D7S8 and GC were determined for 374 unrelated Italians using a multiplex PCR-amplification and typing commercial kit. The distribution of the genotype frequencies showed no deviations from Hardy-Weinberg expectations. The combined power of discrimination and chance of exclusion for all five loci were 0.999 and 0.702, respectively. A test for homogeneity was performed and no significant differences were observed among the Caucasian population samples.

Genetic Identification from Dental Pulp by Using DNA Amplification (PCR)

The particular dental envelope resistance to environmental factors and putrefactive phenomena allows to obtain idoneus DNA for amplification by PCR and to use these human remains for forensic purposes so, the dental pulp permits to acquire genetic profiles and to compare these with familiar patterns.In forensic science is also important to determine how environmental factors can effect the human DNA. This kind of study is not very represented in literature. Infact the recent introduction of PCR method allows to carry out these analysis using a small amount of substance and exceed the limitations of Southern Blot.To evaluate the possibility offered by dental pulp and the applicability of different genetic markers, the authors have typified DNA obtained from teeth subjected to various environmental conditions and they have studied three different markers: the DQalpha locus, a VNTR system (D1S80 locus) and a STR system (HumTH01).

Genetic polymorphism of orosomucoid (ORM1 and ORM2) in Lombardy (Italy)

SummaryOrosomucoid subtypes have been analysed in 600 unrelated individuals from the Brescia Area (Lombardy-Italy) by the isoelectric focusing technique and immunoprinting. Five ORMI phenotypes were observed. The ORM2 pattern was found to be virtually monomorphic, but one variant with an additional single band was found. The estimated allele frequencies were: ORM1*F1 = 0.5992, ORM1*F2 = 0.0150, ORM1*S = 0.3858.ZusammenfassungBei 600 nicht verwandten Individuen aus Brescia (Italien) wurden die Orosomucoid-Subtypen mittels isoelektrischer Fokussierung und anschließender PrintImmunofixation bestimmt. Die beobachteten Allelefrequenzen waren: ORM1*F1 = 0.5992, ORM1*F2 = 0.0150, ORM1*S = 0.3858.