The mitochondrial landscape of African Americans: An examination of more than 2500 control region haplotypes from 22 U.S. locations

Scheible,M.; Just,R.; Sturk-Andreaggi,K.; Saunier,J.; Parson,W.; Parsons,T.; Coble,M.; Irwin,J.; The mitochondrial DNA (mtDNA) control region (16024-576) was Sanger-sequenced for a total of 2563 self-identified African Americans, using automated processing techniques and data review standards exceeding guidelines for forensic applications. Genetic diversity ranged from 0.9952 to 0.9998 in 22 population samples from 20 different states. Haplogroups of African ancestry, found in 82.48% of individuals overall, were most concentrated in the Southeast U.S. and decreased to the north and west. [Read More]

TriXY-Homogeneous genetic sexing of highly degraded forensic samples including hair shafts

Madel,M.B.; Niederstatter,H.; Parson,W.; Sexing of biological evidence is an important aspect in forensic investigations. A routinely used molecular-genetic approach to this endeavour is the amelogenin sex test, which is integrated in most commercially available polymerase chain reaction (PCR) kits for human identification. However, this assay is not entirely effective in respect to highly degraded DNA samples. This study presents a homogeneous PCR assay for robust sex diagnosis, especially for the analysis of severely fragmented DNA. [Read More]

[Drowning versus cardiac ischemia : Cardiac arrest of an 11-year-old boy at a swimming lake]

Födinger,A.; Woess,C.; Semsroth,S.; Stadlbauer,K.H.; Wenzel,V.; This report describes a case of sudden cardiac arrest and subsequent attempted cardiopulmonary resuscitation of an 11-year-old child on the shores of a swimming lake. Reports of eyewitnesses excluded the obviously suspected diagnosis of a drowning accident. The result of the autopsy was sudden cardiac death due to a congenital coronary anomaly (abnormal left coronary artery, ALCA). Favored by vigorous physical activity, this anomaly can lead to malignant arrhythmias because the ectopic coronary artery with its intramural course through the aortic wall is compressed during every systole. [Read More]

Admixture and genetic diversity distribution patterns of non-recombining lineages of Native American ancestry in Colombian populations

Xavier,C.; Builes,J.J.; Gomes,V.; Ospino,J.M.; Aquino,J.; Parson,W.; Amorim,A.; Gusmao,L.; Goios,A.; Genetic diversity of present American populations results from very complex demographic events involving different types and degrees of admixture. Through the analysis of lineage markers such as mtDNA and Y chromosome it is possible to recover the original Native American haplotypes, which remained identical since the admixture events due to the absence of recombination. However, the decrease in the effective population sizes and the consequent genetic drift effects suffered by these populations during the European colonization resulted in the loss or under-representation of a substantial fraction of the Native American lineages. [Read More]