Somatic Instability in Cancer at Seven Tetrameric STR Loci Used in Forensic Genetics

Author(s):  
A. Alonso ◽  
P. Martín ◽  
C. Albarrán ◽  
A. Guzman ◽  
B. Aguilera ◽  
...  
Gerontology ◽  
2018 ◽  
Vol 64 (4) ◽  
pp. 326-332 ◽  
Author(s):  
Walther Parson

Forensic genetics developed from protein-based techniques a quarter of a century ago and became famous as “DNA fingerprinting,” this being based on restriction fragment length polymorphisms (RFLPs) of high-molecular-weight DNA. The amplification of much smaller short tandem repeat (STR) sequences using the polymerase chain reaction soon replaced RFLP analysis and advanced to become the gold standard in genetic identification. Meanwhile, STR multiplexes have been developed and made commercially available which simultaneously amplify up to 30 STR loci from as little as 15 cells or fewer. The enormous information content that comes with the large variety of observed STR genotypes allows for genetic individualisation (with the exception of identical twins). Carefully selected core STR loci form the basis of intelligence-led DNA databases that provide investigative leads by linking unsolved crime scenes and criminals through their matched STR profiles. Nevertheless, the success of modern DNA fingerprinting depends on the availability of reference material from suspects. In order to provide new investigative leads in cases where such reference samples are absent, forensic scientists started to explore the prediction of phenotypic traits from the DNA of the evidentiary sample. This paradigm change now uses DNA and epigenetic markers to forecast characteristics that are useful to triage further investigative work. So far, the best investigated externally visible characteristics are eye, hair and skin colour, as well as geographic ancestry and age. Information on the chronological age of a stain donor (or any sample donor) is elemental for forensic investigations in a number of aspects and has, therefore, been explored by researchers in some detail. Among different methodological approaches tested to date, the methylation-sensitive analysis of carefully selected DNA markers (CpG sites) has brought the most promising results by providing prediction accuracies of ±3–4 years, which can be comparable to, or even surpass those from, eyewitness reports. This mini-review puts recent developments in age estimation via (epi)genetic methods in the context of the requirements and goals of forensic genetics and highlights paths to follow in the future of forensic genomics.


Author(s):  
Maan Hasan Salih ◽  
Akeel Hussain Ali Al-Assie ◽  
Majeed Arsheed Sabbah

Short tandem repeats (STRs) have been recommended as the highest polymorphic loci among the humana DNA regions. Therefore, STRs are agreeable to many genetic fields like forensic, population genetics and anthropological studies. The main aim of this research is to evaluate the autosomal STRs in Tikrit city-Iraq, to expand the human genetics database and forensic genetics analysis. The DNA database was obtained from 306 unrelated volunteers from native Tikrit population-Iraq, using 15 autosomal STR loci. The current study determined the allele frequencies in the Tikrit population and then compared them with other national Iraqi populations as well as with populations in the Middle East, Africa, and Europe. The highest level of heterozygosity was observed in D8S1179 and TH01 loci (0.797), while the less level was shown by CSF1PO (0.48). The departure from HWE Equilibrium was recorded in only 3 STR loci from a total of 15 loci analyzed (p<0.003). The Combined Match Probability (CMP) for 15 autosomal STR was 1 in 7.89208×10-19 and the Combined Discrimination Power (CDP) was 0.9999999997. The discrimination power (DP) was especially high in D2S1338, D18S51, D19S433 and D21S11. Based on the results observed in a Dendrogram, Tikrit population was clustered with other populations, likely reflecting the historical and geographical factors. D2S1338, D18S51, D19S433 and D21S11 markers were recognized as suitable for forensic genetics analysis in Tikrit population. Also, the 15 STRs markers provide information for the studies of genetic distances between the current study and other included populations to be compared with this study.


2018 ◽  
Vol 2 (1) ◽  
pp. 14
Author(s):  
Berina Zametica ◽  
Sonja Mačar ◽  
Abdurahim Kalajdžić ◽  
Amela Pilav ◽  
Mirela Džehverović ◽  
...  

Mutation analysis in forensic genetics and occurrence of mutations at short-tandem repeat (STR) loci, are very important in paternity testing and precise elucidation of obtained genetic profiles. To determine these locus-specific mutations in Bosnian-Herzegovinian population and their rate, 15 or 22 autosomal loci were typed using PowerPlex 16 and PowerPlex Fusion systems. In total, 1253 individuals within 583 parenthood testing cases were profiled at the Institute for Genetic Engineering and Biotechnology, University of Sarajevo during the period from 2009-2018. Out of total cases, in 13 cases 14 mutations were discovered at 11 loci. Among all tested DNA profiles two mutations occurred at D8S1179, D18S51 and FGA loci each, and one mutation at PENTA D, D3S1358, CSF1P0, D21S11, D5S818, vWA, D16S539, PENTA E. Mutation rates were calculated for 11 loci and were in consistency with mutation rates reported for correspondent locus. In our study, one mutation at locus PENTA D derives from maternal source. Also in one trio paternity case two single-step mutations at loci D16S539 and D18S51 were observed. Our results confirmed mutation analysis is important in paternity testing and therefore much attention should be directed at their analysis


2016 ◽  
Vol 294 ◽  
pp. 59-65
Author(s):  
Kornelia Droździok ◽  
◽  
Jadwiga Kabiesz ◽  
Marcin Tomsia ◽  
◽  
...  

In the report we have presented cases where false opinions concerning disputed paternity and blood relationship establishment were issued. In case 1a wrong assumption resulted in a false opinion in which paternity was excluded. The genetic profile of the child’s deceased defendant father was generated from genetic profiles of the child’s grandparents. In the issued opinion it was concluded that the deceased is not the child’s father. Based on analysis of grandparents’ genetic profiles we can only conclude that the child is not their grandchild. In disputed paternity cases where DNA from the child’s relatives (grandparents, siblings etc.) but not its parents is examined, many autosomal STR loci should be determined and if needed, STR loci on chromosome Y and X. Moreover, statistical analysis should be carried out. In case 2 the opinion was issued based on the fact that there were no excluding traits between defended relatives. In case 3 sampling was not done according to the proceedings, which did not allow to establish whether the sent samples were from the people mentioned in the protocol and finally a false opinion was issued. The report confirms a great role of a forensic genetics expert in issuing a true opinion concerning disputed paternity or blood relationship.


Rechtsmedizin ◽  
2021 ◽  
Author(s):  
Jana Naue ◽  
Julia Winkelmann ◽  
Ulrike Schmidt ◽  
Sabine Lutz-Bonengel

AbstractThe analysis of age-dependent DNA methylation changes is a valuable tool in epigenetic research and forensic genetics. With some exceptions, most studies in the past concentrated on the analysis of blood, buccal, and saliva samples. Another important sample type in forensic investigations is hair, where age-dependent DNA methylation has not been investigated so far. In this pilot study a deeper look was taken at the possibilities and challenges of DNA methylation analysis in hair. The DNA methylation of selected age-dependent 5’-C-phosphate-G‑3’ (CpG) sites were characterized for their potential use as a biomarker for age prediction using plucked hair samples and massive parallel sequencing. Plucked hair roots of 49 individuals were included in the study. The DNA methylation of 31 hairs was successfully analyzed. The DNA methylation pattern of 10 loci, including ELOVL2, F5, KLF14, and TRIM59, was determined by amplicon-based massive parallel sequencing. Age-dependent changes were found for several markers. The results demonstrate the possible use of already established age-dependent markers but at the same time they have tissue/cell type-specific characteristics. Special challenges such as low amounts of DNA and degraded DNA as well as the possible heterogeneous cellular composition of plucked hair samples, have to be considered.


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