Success rate of rapid DNA technology in kinship analysis for forensic purpose.

Reducing the time required for DNA analysis in forensic genetics can yield significant benefits, both in determining genealogical relationships for legal proceedings and in criminal cases. Swift identification of individuals plays a pivotal role in solving crimes and apprehending perpetrators. Additionally, in situations like mass disasters, prompt victim identification holds utmost importance. The Rapid DNA technology, introduced in 2012 to expedite DNA analysis, has evolved to streamline the process into a single step. This advancement not only minimizes the risk of human error and contamination, but also boasts a remarkable time advantage, delivering results in as little as 90 min. In this study, DNA profiles of 30 families (consisting of mothers, fathers, and children) were analyzed using the RapidHITTM ID System. The system automatically calculated maternity-paternity probabilities to assess the suitability of Rapid DNA technology for kinship analysis. For validation, DNA profiles were also generated using the 3500 GA method. The study revealed that 9 out of 30 families exhibited discrepancies in DNA profiling, leading to inaccuracies in automatic kinship analysis. Consequently, while the method offers rapid and user-friendly advantages for forensic sciences, the software underlying the system requires re-evaluation. Issues such as maternal-paternal exclusion in kinship analyses, arising from challenges like un-called alleles, warrant further attention.

DNA recovery and human identification from semen stains washed at different temperatures.

One of the most important pieces of evidence to find the suspect of a sexual assault are semen stains. It has been observed that suspects do not use condoms in many cases and transfer seminal fluids over the body of the victim, to their clothes, to bed linen, or to other objects in the environment. However, in many cases, it has been seen that the suspects or the victims tend to clean their bodies and clothes because of psychological conditions such as fear, panic, and anxiety. This study aims to determine whether human identification can be accomplished from washed semen stains by evaluating the quantity of extracted DNA obtained from washed clothes. In this study, both cotton- and nylon-blended fabrics were stained with semen samples taken from 10 volunteers and washed with detergent at 40 °C, 60 °C, and 90 °C. After stains were made re-visible using an ultraviolet (UV) light source, DNA was extracted using two different extraction methods (phenol-chloroform and spin-column). As a result, DNA extraction methods, washing conditions, and obtained DNA quantity from different washed fabrics were compared. It was shown that DNA could be obtained from all samples and that these DNA amounts could be used to perform identification. This study gives hope to the victims who have not been able to go to the judicial units immediately after the incident for fear or any other reasons and who think that they cannot get results because they have washed the laundry.

Evaluation of Retinal Changes Using Optical Coherence Tomography in a Pediatric Case of Susac Syndrome.

Susac syndrome is a rare occlusive vasculopathy affecting the retina, inner ear and brain. The cause is unknown, although it generally affects young women. This syndrome can be difficult to diagnose because its signs can only be revealed by detailed examination. These signs are not always concomitant, but may appear at different times. This report describes a pediatric case who was diagnosed with Susac syndrome when retinal lesions were identified in the inactive period with the help of optical coherence tomography (OCT). The purpose of this case report is to emphasize the importance of OCT in clarifying undefined retinal changes in Susac syndrome.

The use of DNA microsatellite loci for "Caretta caretta" identification.

Caretta carettas, one of the members of Chelonidae family, live primarily in water, except the periods of their ovulation where they come out to the shores to lay their eggs. Following an incubation period of 50-60 days, the newborns return to sea water to continue their 10-12-year life. Studies using marking methodology of the animals have shown that females return to the same place for ovulation every 2-3 years. The development of molecular genetic studies gives us now opportunity to trace all these routes that Caretta carettas follow during their life cycle. One of the basic techniques that is used for identification in general is the polymorphic DNA microsatellite loci. These 2-4 base pair DNA segments are considered to be ideal for Caretta caretta identification also. In this study we tried to establish a protocol in order to identify both male and female carettas in tissue samples collected from animals in the Mediterranean shoreline in the southern Turkey once this shoreline is one of the main spots of them for ovulation. The sampling has been done from 89 locations (Dalyan, Dalaman, Fethiye, Patara, Kale, Kumluca, Belek, Kizilot, Demirtas, Gazipasa and Anamur) from 246 dead baby Caretta carettas. DNA was extracted using silica-based extraction technology from the tissue homogenates. Cc7 locus was selected for identification to be tested for its degree of polymorphic content and therefore power of discrimination in general. The methodology used is PCR, followed by polyacrilamide gel electrophoresis and silver staining.

DNA analysis as a tool for breast cancer malpractice determination: an interdisciplinary approach.

Malpractice in breast cancer can be seen as false-negative or false-positive findings which may result in either late or incorrect therapies. Biopsy material can be unintentionally interchanged, leading to incorrect treatment, and psychological damage to the patient. There is an obvious need for individualization of the tissue samples in such cases. In this study we used a multidisciplinary approach to integrate DNA technology that has been standardized and used in forensic science for other purposes, mainly to prove malpractice that has been the result of interchanging tissue samples in breast cancer. The main focus of the study was to evaluate the applicability of the technique, therefore we studied the samples of a 58-year-old female for whom the result of pathological analysis was reported as 'invasive ductal carcinoma'. The patient was surgically treated by a modified mastectomy technique and referred for chemotherapy. Prior to chemotherapy we found that the tissue samples analyzed did not belong to the patient in question. We used a battery of 15 polymorphic STR loci to identify the sample and we had strong evidence for exclusion of the patient. The analysis was done on both blood and buccal swab of the patient and on the tissue sample. We concluded that the technique is applicable and useful; however care should be taken in the interpretation of the results because the mutations in the tumoral tissues are very well known. Therefore, the maximum of informative loci should be studied and loss of heterozygosity should always be considered. We should also have in mind the possibility of intentional interchange which gives the results value in medico-legal investigations.

Excavating Y-chromosome haplotype strata in Anatolia.

Analysis of 89 biallelic polymorphisms in 523 Turkish Y chromosomes revealed 52 distinct haplotypes with considerable haplogroup substructure, as exemplified by their respective levels of accumulated diversity at ten short tandem repeat (STR) loci. The major components (haplogroups E3b, G, J, I, L, N, K2, and R1; 94.1%) are shared with European and neighboring Near Eastern populations and contrast with only a minor share of haplogroups related to Central Asian (C, Q and O; 3.4%), Indian (H, R2; 1.5%) and African (A, E3*, E3a; 1%) affinity. The expansion times for 20 haplogroup assemblages was estimated from associated STR diversity. This comprehensive characterization of Y-chromosome heritage addresses many multifaceted aspects of Anatolian prehistory, including: (1) the most frequent haplogroup, J, splits into two sub-clades, one of which (J2) shows decreasing variances with increasing latitude, compatible with a northward expansion; (2) haplogroups G1 and L show affinities with south Caucasus populations in their geographic distribution as well as STR motifs; (3) frequency of haplogroup I, which originated in Europe, declines with increasing longitude, indicating gene flow arriving from Europe; (4) conversely, haplogroup G2 radiates towards Europe; (5) haplogroup E3b3 displays a latitudinal correlation with decreasing frequency northward; (6) haplogroup R1b3 emanates from Turkey towards Southeast Europe and Caucasia and; (7) high resolution SNP analysis provides evidence of a detectable yet weak signal (<9%) of recent paternal gene flow from Central Asia. The variety of Turkish haplotypes is witness to Turkey being both an important source and recipient of gene flow.