Search

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.

In a newborn who died 5 days after birth, a rare mutation for the cystic fibrosis gene was found, allowing the clinicians to suspect that the child was a product of an incest. A forensic genetic analysis on the newborn, on the girl and her parents was very suggestive for the incest hypothesis. The girl's father was suspected, but an exclusion at two loci was found. Using the software for genetic analysis bFamiliasQ, considering different hypothesis, the most probable situation was the existence of a girl's brother. This hypothesis allowed the Prosecutor to discover the existence of a girl's brother, who admitted the crime later. D 2005 Published by Elsevier B.V.

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.

A sample of 26 skeletal remains from an 18th century graveyard were typed with the Profiler Plusk kit. To assess the possible relationships existing among these individuals, we applied a method based on the probabilities of sharing 0, 1 or 2 alleles identical by state (IBS) per locus among all possible pairs. We identified with high confidence (P>99%) a trio of two brothers with a child and a second pair of two siblings. D 2003 Elsevier Science B.V. All rights reserved.