Molecular characterization of a null allele at locus DXS8378

Typing of X-chromosomal short tandem repeat (STR) loci in a deficiency paternity case revealed a single Mendelian incompatibility between a female child and her putative grandmother, consisting of an opposite homozygosity at locus DXS8378. The presence of a null allele due to a primer binding site mutation on the child's paternally inherited X chromosome was confirmed by amplification with newly designed DXS8378 external primers. Sequencing analysis showed a point mutation (C > T transition at position 168, according to GenBank accession G08098) in the binding site of the original DXS8378 reverse primer.     

Y- STRs and forensic parameters in African populations

Short Tandem Repeat polymorphisms have been widely studied in the world, since specific databases are required to produce correct estimates of forensic statistical parameters. In this regard, Y-chromosome STRs have been studied mainly in Europe but are relatively scarce for sub-Saharan populations, despite these populations are represented in most of the Western countries. The aim of this work is to detect groups of populations with the lowest genetic variability within the African context. This allows to establish the relative homogeneity of Y-STRs databases for forensic casework and eventually to provide a wider insight into the African genetic history.     

Allele frequency distribution for 21 autosomal STR loci in Bhutan

We studied the allele frequency distribution of 21 autosomal STR loci contained in the AmpFlSTR^® Identifiler™ (Applied Biosystems), the Powerplex^®16 (Promega) and the FFFL (Promega) multiplex PCR kits among 936 individuals from the Royal Kingdom of Bhutan. As such these are the first published autosomal DNA results from this country.     

Postmortem identification of the edentulous deceased: denture tissue surface anatomy

This model evaluates the use of dental stone casts derived from maxillary tissues and from the internal aspects of maxillary dentures for edentulous postmortem identification. Tissue topography of the total cast and of rugae tracings photographed from the casts were evaluated for identification accuracy in twenty-eight trials for each of the two designs. Eight casts were examined in each trial. The trial was designed as matching or nonmatching, and as an equivocal or unequivocal decision by the examiner. Unequivocal decisions with 100% accuracy resulted when the entire dental cast was evaluated. Seventy-nine percent accuracy with equivocation in some trials resulted when only rugae tracings from the casts were evaluated. This investigation supported use of stone casts derived from the internal anatomy of maxillary dentures for forensic science identification when cast topography in toto was considered.     

Rupture of a giant splenic artery aneurysm. Report of an autopsy case.

We describe an autopsy case of a 61-year-old woman with von Recklinghausen's disease, who died suddenly following intraperitoneal hemorrhage due to the rupture of a giant splenic artery aneurysm. The aneurysm measured 16 x 13 x 5.5 cm--much larger than those in most previous reports. The pancreatic body, which was pressed by the aneurysm, was widely atrophic. In general, splenic artery aneurysms are more frequent in pregnant women or patients with portal hypertension. The pathogenesis of this aneurysm is presumed to be arterial dysplasia, focal arterial inflammation, or portal hypertension, unlike other aneurysms due to arteriosclerosis or syphilis. Since the patient had not been pregnant and had not had liver cirrhosis or arteriosclerosis, the pathogenic factor could not be determined in this case. The relationship between the genesis of the aneurysm and von Recklinghausen's disease was not clear either.