0000000000409969

AUTHOR

Bernd Brinkmann

Considerations from the European DNA profiling group (EDNAP) concerning STR nomenclature

(1) The nomenclature of any STR follows from comparison with a control allelic ladder; availability of reference allelic ladders is central to any scheme. The components of an allelic ladder should be sequenced. (2) The DNA commission recommended a nomenclature based upon the number of repeat sequences present in an allele. Whereas this method is suitable for typing simple STRs, complex hypervariable repeats such as ACTBP2 do not conform to a simple repeating structure. We propose that designation of complex STR repeats such as ACTBP2, D11S554 and APOAI1 follows from the size of specific alleles. Because the size is dependant upon the primers utilised, the size is not definitive (it may als…

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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).

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Diethylene glycol (DEG)-associated myocardial changes: a pilot investigation of chronic intoxication in guinea-pigs.

The myocardium of guinea pigs fed on sublethal doses of diethylene glycol (DEG) over a period of 2–11 days was examined for microscopical and ultrastructural changes. Coagulative myocytolysis and loss of myofibrils, not observed in the controls, was patchily distributed throughout the myocardium. The accompanying ultrastructural features included swelling, pleomorphism and hyperplasia of mitochondria with an associated distension of the interfibrillary spaces and a displacement, distortion and rupture of adjacent myofibrils.

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Sudden death due to cardiac sarcoidosis in a case of suspected homicide

In a case of suspected homicide death due to natural causes — cardiac death (SCD) — was found at autopsy. Despite an extensive replacement of myocardial tissue by sarcoid granulomata there was no history of cardiac dysfunction or preceding symptoms. The transmurally infiltrating granulomata and the concomitant fibrosis were predominantly confluent. They occupied vast areas within the interventricular septum and the adjacent posterior wall of the left ventricle. The only other organs involved were mediastinal lymph nodes, which appeared macroscopically normal.

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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).

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The EDNAP mitochondrial DNA population database (EMPOP) collaborative exercises: organisation, results and perspectives.

This paper presents an overview of the organisation and the results of the collaborative exercises (CE) of the European DNA Profiling (EDNAP) Group's mitochondrial DNA population database project (EMPOP). The aim of the collaborative exercises was to determine whether uniformity of mtDNA sequencing results could be achieved among different laboratories. These were asked to sequence either the complete mtDNA control region or the two hypervariable regions HVI (16024-16365) and HVII (73-340) from DNA extracts, buccal swabs or bloodstains, proceeding in accordance with the protocol and strategies used in each individual laboratory. The results of the collaborative exercises were employed to id…

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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…

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DNA Commission of the International Society of Forensic Genetics: recommendations on forensic analysis using Y-chromosome short tandem repeats

Abstract 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.

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