Search

Abstract: Within an Italian collaborative exercise on the extended haplotype of the Y-chromosome, 1288 subjects were typed by the AmpFlSTR YFiler Amplification Kit (AB Applied Biosystems) and other 526 were typed by the PowerPlex Y® System (Promega). The sampling scheme included either a “regional” or a “local” recruitment, the first referring to individuals born in the region of the participating lab, the second referring to individuals coming from small villages. Total sample sizes were N =954 and 860, respectively. A significant decrease of haplotype diversity was found in the local samples. The results may be of interest in forensic applications of the Y-chromosome. [Copyright &y& Elsevier]

Abstract: To establish a database for DXS8378, HPRTB, DXS7423, DXS7132, DXS10134, DXS10074, DXS10101, DXS10135 loci in an Italian population sample from Brescia (Northern Italy) and from the Sardinia island, 131 unrelated individuals were typed. DNA was amplified in a multiplex reaction with subsequent automatic detection using capillary electrophoresis. The obtained data give a contribution to the definition of Italian population STR allele frequencies for the eight analysed loci. [Copyright &y& Elsevier]

Abstract: To establish a database for SE33 locus for an Italian population sample from Brescia (northern Italy), 90 unrelated individuals were typed. DNA samples were amplified using a commercial kit with subsequent automatic detection using capillary electrophoresis. The obtained data are very useful in our practice and they give a contribution to the definition of Italian population STRs allelic and genotypic frequencies for the locus analysed. [Copyright &y& Elsevier]

Abstract: To establish a database for DXS8378, DXS7132, HPRTB, DXS7423 loci in an Italian population sample from Brescia (northern Italy), 90 unrelated individuals were typed. DNA was amplified in a multiplex reaction with subsequent automatic detection using capillary electrophoresis. The obtained data are very useful in our practice and they give a contribution to the definition of Italian population STR allelic, genotypic and haplotypic frequencies for the four analysed loci. [Copyright &y& Elsevier]

To establish databases for D16S539, D2S1338 and D19S433 loci for an Italian population sample from Brescia (Northern Italy), 77 unrelated persons were typed. DNA samples were amplified in a multiplex reaction with subsequent automatic detection using capillary electrophoresis. The obtained data are very useful in our practice and they give a contribution to the definition of Italian population short tandem repeat (STR) allelic and genotypic frequencies for the three analysed. [Copyright &y& Elsevier]

Abstract: A sample of 1070 individuals was collected by 12 collaborating forensic laboratories from Central and Northern Italy, and typed by the so-called “NC01” triplex, including the three loci D10S1248, D14S1434, and D22S1045. Heterozygosities were 0.771, 0.717, and 0.720, respectively. [Copyright &y& Elsevier]

Abstract: To establish a database for the three MiniNC01 loci D10S1248, D14S1434, D22S1045 in a population sample from North-eastern Italy, 102 unrelated individuals were typed. DNA was amplified in a multiplex reaction with subsequent automatic detection using capillary electrophoresis. The obtained data give a contribution to the definition of Italian population miniSTRs allele frequencies for the three analysed loci. These three MiniSTRs were tested on 21 neoplastic tissues and the obtained genotypes were compared to those obtained from normal tissue. Only 3 cases (14.28%) gave a different genotype suggesting a better performance of these markers than traditional STRs. [Copyright &y& Elsevier]

Abstract: We collected published and unpublished data from 17 contributing groups participating in the GeFI (Italian Forensic Geneticists). The total number of typed subjects was 1114 males and 777 females, coming from 11 regions of North, Centre, and South Italy, and Sardinia. Individual''s multilocus genotypes included 4–12 loci. The total number of typed markers was 29, scattered along the X-chromosome genetic map in several clusters; the most used marker was DXS7423 (2429 gene copies); the mean number of subjects typed per marker was 336 for males and 208 for females. Data are available online. [Copyright &y& Elsevier]

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. [Copyright &y& Elsevier]

Introduction: This study evaluates the assessment protocol that allows the correlation between the development of mesothelioma to a specific exposure, with particular focus on investigations with Scanning Electron Microscope with Energy Dispersion Spectroscopy., Methods: This retrospective study includes 80 subjects who died from mesothelioma in the period 2001-2019. A judicial autopsy was performed for each case to confirm cause of death and correlate the disease with specific asbestos exposure. In 28 cases investigations were carried out to determine the pulmonary load of the asbestos fibres and corpuscles in the lung tissue through microscopic investigations, in order to confirm the suspicion of occupational exposure., Results: Our data agree with the scientific literature reported, but it is interesting to underline how the present study uses a different systematic approach than others, which are mainly based on epidemiological and environmental studies without considering the lung content of fibres and corpuscles., Conclusion: It would be desirable that the use of the microscopic analysis was introduced in the evaluation protocol: it should always be carried out if the suspicion of asbestos-related disease is raised and not only as a possible integration to the less expensive anamnestic evaluation, even more so if the work or personal history should be suggestive of exposure to asbestos fibres., (Copyright © 2022 Elsevier B.V. All rights reserved.)

Aim: To find an association between Y chromosome polymorphisms and some ethnic groups., Methods: Short tandem repeats (STR) and single-nucleotide polymorphisms (SNP) on the Y chromosome were typed in 311 unrelated men from four different ethnic groups - Italians from northern Italy, Albanians, Africans from the Maghreb region, and Indo-Pakistanis, using the AmpFlSTR® Yfiler PCR Amplification Kit and the SNaPshot Multiplex Kit., Results: STRs analysis found 299 different haplotypes and SNPs analysis 11 different haplogroups. Haplotypes and haplogroups were analyzed and compared between different ethnic groups. Significant differences were found among all the population groups, except between Italians and Indo-Pakistanis and between Albanians and Indo-Pakistanis., Conclusions: Typing both STRs and SNPs on the Y chromosome could become useful in determining ethnic origin of a potential suspect.

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.

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.

One hundred and thirty unrelated individuals (80 females and 50 males) from Brescia (northern Italy) were typed for DXS8378, DXS7132, HPRTB and DXS7423 loci. Allele, genotype and haplotype frequencies were calculated. A comparison between our population data and others from Caucasians and Asians populations was performed.

Results from a collaborative exercise with proficiency testing conducted by 20 Italian laboratories on the 15 loci included in the Identifiler kit were analyzed by allele sharing methods and by standard population genetics tests. The validated database, including about 1500 subjects, was merged with that of a previous exercise conducted on nine loci, and the resulting allele frequencies, subdivided by Italian region, were published on-line.

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.

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.

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.

Orosomucoid subtypes have been analysed in 600 unrelated individuals from the Brescia Area (Lombardy-Italy) by the isoelectric focusing technique and immunoprinting. Five ORM1 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.

Alpha 2HS-subtypes have been analysed in samples from 700 unrelated individuals from the Brescia area (Italy) by the isoelectric focusing technique and immunofixation. The observed allele frequencies were: alpha 2HS*1 = 0.7472; alpha 2HS*2 = 0.2507; alpha 2HS*V = 0.0021.