Legal and ethical considerations of the Human Genome Project.
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The mitochondrial DNA (mtDNA) haplogroups of 54 full-blooded modern and 64 ancient Native Americans from northwestern North America were determined. The control regions of 10 modern and 30 ancient individuals were sequenced and compared. Within the Northwest, the frequency distribution for haplogroup A is geographically structured, with haplogroup A decreasing with distance from the Pacific Coast. The haplogroup A distribution suggests that a prehistoric population intrusion from the subarctic and coastal region occurred on the Columbia Plateau in prehistoric times. Overall, the mtDNA pattern in the Northwest suggests significant amounts of gene flow among Northwest Coast, Columbia Plateau, and Great Basin populations.
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Data and information derived from the teeth and oral structures have been used successfully where other methods of identification or determination of criminal responsibility have failed. In many instances, the techniques used in forensic dentistry bring evidence to a point of certitude that would otherwise be lacking. Teeth, by their formation and structure and their relative permanence, record and retain the history of their development and the history of the incidents to which they have been subjected. Generally, the characteristics of formation and structure of teeth contribute information pertinent to probabilities of relationships and probabilities of events. As a result, these characteristics are highly useful in affirming or negating evidence as circumstantial or as factual.
Given the lack of information about Y haplotypes for Campania (southern Italy), we analyzed eight Y short tandem repeats in a sample of males from this region with the aim of establishing a Y-haplotype database that can be used for forensic purposes. The eight Y short tandem repeats were amplified by two PCR multiplex reactions: multiplex A for loci DYS19, DYS385, DYS392 and DYS393, and multiplex B for DYS389 I and II, DYS390, DYS391 and DYS385. The proportion of unique haplotypes was 100% (108 Y-chromosome haplotypes in 108 unrelated males) and the haplotype diversity discrimination index was 0.99. These data reflect the high heterogeneity of male lineage in our population and are similar to those obtained in other regions of southern Italy.
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The non-coding region of the mitochondrial genome provides an attractive target for human forensic identification studies. Two hypervariable (HV) regions, each approximately 250-350 bp in length, contain the majority of mitochondrial DNA (mtDNA) sequence variability among different individuals. Various approaches to determine mtDNA sequence were evaluated utilizing highly sensitive infrared (IR) fluorescence detection. HV regions were amplified either together or separately and cycle-sequenced using a Thermo Sequenase protocol. An M13 universal primer sequence tail covalently attached to the 5' terminus of an amplification primer facilitated electrophoretic analysis and direct sequencing of the amplification products using IR detection.
We applied Y-STRs (DYS385/DYS19/YCAII) to an adhesive plaster left at a crime scene. This plaster may have included body fluids from more than one person. Firstly, we performed preliminary examinations, ABO-blood type examinations, and commonly used DNA examinations (D1S80, HLADQalpha, TH01, and PM) on these specimens. As a result of these examinations, we could evidence that suspect A did not contacted with the plaster, but could not confirm the presence of perspiration from suspect B. As the next step, we applied Y-STR examination to the plaster. Using this examination, we detected alleles that coincided to those of suspect B. We also concluded that the fluid from an unidentified person was vaginal fluid based on crime scene investigation. Y-STRs examination data obtained from 124 persons in Tokushima prefecture showed that 1.613% of individuals demonstrated haplotypes 10-18/15/19-23, which was detected from the plaster and from suspect B. Therefore, we considered that there was a high probability that the persiration detected in the plaster was that of suspect B. Based on these studies, we concluded that Y-STR examination of trace evidence was very useful to screen suspects using materials that contained body fluid from more than one person.
rDNA tests are playing an increasing role in the diagnostic laboratory. These tests have a number of advantages over conventional protein or biochemical markers. Their main disadvantages are interpretation of results and technical problems. The latter will, in many cases, be resolved by availability of kits. On the other hand, interpretation can be difficult and requires experience as well as close liaison between clinicians and the laboratory.
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This case report demonstrates a rape case, where no semen, hair, or fingerprints were left by the perpetrator at the crime scene, but rather uncharacteristic biological and physical evidence in the form of a lollipop and a pair of glasses. Three separate forensic laboratories collaborated using conventional forensic methods of PCR DNA typing, photography, and toolmark comparisons to provide investigators with scientific evidence which in turn was instrumental in bringing a violent criminal to justice. The importance of evaluating each item of evidence and realizing its forensic value is stressed in this case report.
A female body was recovered after approximately 5.5 h in a river with slow-moving current. On the victim's right breast, a patterned injury was discovered and determined to be from human adult teeth. Evidence was collected according to established techniques including recovery of saliva from the bite mark area despite the body being found submerged in water. DNA analysis by PCR using polymorphic STR markers revealed a DNA profile of mixed origin. In addition to the victim's DNA profile, a genotype contribution from the perpetrator was identified as a minor component. The DNA typing results from the bite mark correlated with the DNA typing results obtained from other biological trace evidence identified from the victim's genital samples. The bite mark and the DNA evidence were used to screen suspects and played an important role in obtaining resolution of this case. Consequently, it is advisable that investigators routinely swab for salivary DNA in bite mark cases, even when the amount is thought to be minimal.
Allele and genotype frequencies for the five PCR-based loci were analyzed in 157 unrelated Turkish individuals. The five PCR-based loci included LDLR, GYPA, HBGG, D7S8, and Gc. The results of the chi-square and exact tests showed that the genotype distribution at the LDLR, GYPA, D7S8, and Gc loci did not significantly differ from the Hardy-Weinberg Expectation (HWE). However, the genotype distribution at the HBGG locus did not conform to HWE. Moreover, the genotype frequencies calculated in this study were compared with the published genotype frequencies of US African American and US Caucasian populations. The Turkish population was significantly different at the HBGG locus from the US Caucasian population. However, there were highly significant differences at the LDLR, HBGG, and Gc loci between the Turkish and African American populations.
The tetrameric short tandem repeat polymorphisms HUMTH01, HUMVWA31/A, HUMF13A1, and HUMFES/FPS were studied in blood stains obtained from a population of unrelated individuals from the Azores Archipelago (Portugal). Gene frequencies were determined and no deviation from the Hardy-Weinberg equilibrium was found. However, the allelic independence test between loci showed linkage disequilibrium between HUMVWA31/A and HUMFES/FPS. A combined discrimination power and chance of exclusion of, respectively, 0.9999 and 0.9534, reveal the high forensic interest of the four systems. No differences with other caucasoid populations were found, but comparison with some asiatic, eskimo, and amerindian populations showed significant statistical differences.
Allele distributions for 13 tetrameric short tandem repeat (STR) loci, CSF1PO, FGA, TH01, TPOX, VWA, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, and D21S11, were determined in African American, United States Caucasian, Hispanic, Bahamian, Jamaican, and Trinidadian sample populations. There was little evidence for departures from Hardy-Weinberg expectations (HWE) in any of the populations. Based on the exact test, the loci that departed significantly from HWE are: D21S11 (p = 0.010, Bahamians); CSF1PO (p = 0.014, Trinidadians); TPOX (p = 0.011, Jamaicans and p = 0.035, U.S. Caucasians); and D16S539 (p = 0.043, Bahamians). After employing the Bonferroni correction for the number of loci analyzed (i.e., 13 loci per database), these observations are not likely to be significant. There is little evidence for association of alleles between the loci in these databases. The allelic frequency data are similar to other comparable data within the same major population group.
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Due to the mineral matrix bone proteins are capable of surviving during centuries after inhumation, but cross-linking with other bone proteins as well as fragmentation and complex reactions with humic acids and microorganisms lead to considerable alterations in molecular weight and structure of these proteins. Our group concentrates on polymorphic plasma proteins which diffuse out of the capillary system into the bone matrix where they adsorb to the mineralic substrate. So far, only little is known about the degradation and alteration of these proteins in fossil bones. It has to be evaluated whether the aged proteins still contain some of the information which renders them a valuable tool for forensic questions and population genetics in recent populations. Therefore we tried by modification of already existing methods to expand plasma protein identification and subtyping into the new field of aged plasma proteins.