0000000000205037
AUTHOR
Vincenzo Lorenzo Pascali
Forensic validation of Y-chromosome STR polymorphisms in Italy: the GE.F.I. collaborative database
Abstract Haplotype data of 1176 Italian males from 10 regions were obtained as a part of a collaborative validation exercise. Individual data are available at http://www.gefi-forensicDNA.it .
Online reference database of European Y-chromosomal short tandem repeat (STR) haplotypes
The reference database of highly informative Y-chromosomal short tandem repeat (STR) haplotypes (YHRD), available online at http://ystr.charite.de, represents the largest collection of male-specific genetic profiles currently available for European populations. By September 2000, YHRD contained 4688 9-locus (so-called "minimal") haplotypes, 40% of which have been extended further to include two additional loci. Establishment of YHRD has been facilitated by the joint efforts of 31 forensic and anthropological institutions. All contributing laboratories have agreed to standardize their Y-STR haplotyping protocols and to participate in a quality assurance exercise prior to the inclusion of any…
Achievement of Interlaboratory Uniformity — A Summary of Work Carried out by the EDNAP Group
This paper describes a collaborative exercise intended to demonstrate whether uniformity of DNA profiles results could be achieved between different European laboratories. It was shown that this goal would be obtained provided that a common protocol was followed (specifically the use of a common electrophoretic buffer is the most important parameter).
Moors and Saracens in Europe: estimating the medieval North African male legacy in southern Europe.
To investigate the male genetic legacy of the Arab rule in southern Europe during medieval times, we focused on specific Northwest African haplogroups and identified evolutionary close STR-defined haplotypes in Iberia, Sicily and the Italian peninsula. Our results point to a higher recent Northwest African contribution in Iberia and Sicily in agreement with historical data, southern Italian regions known to have experienced long-term Arab presence also show an enrichment of Northwest African types. The forensic and genomic implications of these findings are discussed.
Craniovertebral Junction Transanasal and Transoral Approaches: Reconstruct the Surgical Pathways with Soft or Hard Tissue Endocopic Lines? This Is the Question.
A variety of pathological conditions may affect the clivus and the craniovertebral junction (CVJ). These include congenital disorders, chronic inflammation, neoplasms, infections, and posttraumatic conditions that could all result in CVJ compression and myelopathy Endoscopic-assisted procedures have been further developed for CVJ decompression and they have now become conventional approaches. The aims of the present study were: (1) to compare “radiological” and “surgical” nasoaxial lines (NAxLs); (2) to introduce an analogous radiological line as a predictor of the superior extension of the transoral approach (palatine inferior dental arch line (PIA); (3) to compare the “radiological” nasop…
Population structure in the Méditerranean basin: a Y chromosome perspective
The Mediterranean region has been characterised by a number of pre-historical and historical demographic events whose legacy on the current genetic landscape is still a matter of debate. In order to investigate the degree of population structure across the Mediterranean, we have investigated Y chromosome variation in a large dataset of Mediterranean populations, 11 of which are first described here. Our analyses identify four main clusters in the Mediterranean that can be labelled as North Africa, Arab, Central-East and West Mediterranean. In particular, Near Eastern samples tend to separate according to the presence of Arab Y chromosome lineages, suggesting that the Arab expansion played a…
Paternity Testing Commission of the International Society of Forensic Genetics: recommendations on genetic investigations in paternity cases
The International Society for Forensic Genetics (ISFG) has established a Paternity Testing Commission (PTC) with the purpose of formulating international recommendations concerning genetic investigations in paternity testing. The PTC recommends that paternity testing be performed in accordance with the ISO 17025 standards. The ISO 17025 standards are general standards for testing laboratories and the PTC offers explanations and recommendations concerning selected areas of special importance to paternity testing. # 2002 Elsevier Science Ireland Ltd. All rights reserved.
A report of an international collaborative experiment to demonstrate the uniformity obtainable using DNA profiling techniques
This paper describes a collaborative exercise intended to demonstrate whether uniformity of DNA profile results could be achieved between different European laboratories. It was shown that this goal can be obtained provided that a common protocol is followed (specifically the use of a common electrophoretic buffer as being the most important parameter). Generally, lower molecular weight loci (with lower molecular weight fragments) such as YNH24 perform better than higher molecular weight loci such as MS43a. The results of the exercise are discussed in relation to the objectives of the European DNA profiling group (EDNAP).
Report of a european collaborative exercise comparing DNA typing results using a single locus VNTR probe
A collaborative exercise was carried out in 1989 among 12 European forensic laboratories using the single locus VNTR probe pYNH24, the restriction enzyme HinfI, the same set of human genomic DNA samples, and a standardized DNA size marker. The objectives of the exercise were: (1) to study the degree of variation within and between laboratories, (2) to obtain information on requirements for technical standardization allowing the exchange of typing results and (3) to compare different approaches for the identification of allelic DNA fragments of unknown size. Each laboratory carried out up to 10 independent typing experiments using the same DNA samples. The results were analysed independently…
Y-chromosome haplotypes in Italy: the GEFI collaborative database
Abstract A sample of 1176 males from 10 Italian regions have been typed for DYS19, DYS389-I, DYS389-II, DYS390, DYS391, DYS392, DYS393, and DYS385. Individual haplotype data are available on line. A low degree of variation is present among regions. Use of this database is specifically recommended for forensic applications in Italy.
DNA Commission of the International Society of Forensic Genetics: recommendations on forensic analysis using Y-chromosome STRs
During the past few years, the DNA Commission of the International Society of Forensic Genetics has published a series of documents providing guidelines and recommendations concerning the application of DNA polymorphisms to the problems of human identification. This latest report addresses a relatively new area - namely, Y-chromosome polymorphisms, with particular emphasis on short tandem repeats (STRs). This report addresses nomenclature, use of allelic ladders, population genetics and reporting methods.