RESUMEN
In recent years, several forensic laboratories have noted an increase in the number of sexual assault cases submitted for testing, often leading to longer turnaround times. In that context, forensic laboratories may be interested in reviewing their procedures to increase productivity. Here, we present two different strategies that were put in place in our laboratory. First, we changed the way sexual assault evidence kits (SAEK) are processed by implementing an optimized workflow that prioritizes the internal samples (vaginal, anal, and oral). This new procedure allowed for a drastic decrease in turnaround time, while maintaining a similar investigative power. Secondly, we used data from casework to target cases and samples that were likely to yield biological material from the perpetrator, in an attempt to avoid dedicating time and effort to cases for which there is a very low probability of obtaining foreign DNA evidence. Among other things, we looked at the likelihood of obtaining DNA from the perpetrator when the complainant reported the use of a condom, has showered after the assault or when the complainant has no memory of the assault. Results show that those circumstances do not dramatically decrease the probability of finding DNA from the perpetrator.
RESUMEN
We have analyzed patient DNA samples in 77 unrelated Duchenne (DMD) and Becker (BMD) muscular dystrophy families, 73 of which were of French Canadian origin. We show that the frequency (68%) and distribution of deletions within the dystrophin gene was neither random nor unique in this population. We localized 33% of the deletions to the proximal portion of the dystrophin gene while 63% involved the exons spanning introns 43 through 55 with breakpoint clusters occurring within introns 44 and 50. Whether the dystrophin open reading frame (ORF) is maintained constrains the distribution of DMD/BMD deletions such that BMD deletions tend to be strikingly homogeneous. Finally, the conservation of the dystrophin ORF and the severity of the clinical phenotype were concordant in 95% of the DMD/BMD deletions documented by this work.
