Current Molecular Genetic Developments in Forensic DNA Analysis

DNA analysis obtained from forensic biological evidence provides strong evidence in identifying the perpetrator associated with the incident. The interindividual difference in the number of STR regions and the low mutation rate in these regions have made STRs preferred as genetic markers for donor identification. However, if amount of DNA in the forensic biological material is too low or the DNA is corrupted to such an extent that it doesn't allow analysis, short tandem repeat regions, which are frequently used in forensic genetic methods, cannot be determined. In the case of doubt, when there is no match to the STR profile, any information that can assist in identifying the sample's donor would be invaluable. Therefore, in the forensic genetics, in the diagnosis of identity of biological samples that are difficult to analyze, determining the additional information about the physical appearence of the donor such as age, hair and eyes colours with forensic DNA phenotyping, also such as body fluid and tissue type determination with mRNA and miRNA analyses, new current molecular methods have started to develop in the genetic and epigenetic field. In this review, for analysis of STRs and other markers we review recent advances in this field to maximize the analysis potential in identifying the phenotype of interest, largely through the application of MSP, developments in the interpretation of mixture DNA profiles containing genetic material of more than one person, RNA profiling for body fluid identification, and inclusion of epigenetic methods such as examination of methylation profiles

DEFB4A Promoter Polymorphism Is Associated with Chronic Periodontitis: A Case-Control Study

Background: Human beta-defensin-2 is an antimicrobial weapon peptide with antibiotic properties secreted by the oral cavity to protect the host against microbial attack. The interindividual differences of defensin expression profiles due to genetic variation might be partly responsible for differences in disease susceptibility

A broad clinical spectrum of PLC epsilon 1-related kidney disease and intrafamilial variability

Background The phenotypic and genotypic spectrum and kidney outcome of PLC epsilon 1 -related kidney disease are not well known. We attempted to study 25 genetically confirmed cases of PLC epsilon 1-related kidney disease from 11 centers to expand the clinical spectrum and to determine the relationship between phenotypic and genotypic features, kidney outcome, and the impact of treatment on outcome

Characteristics and predictors of chronic kidney disease in children with myelomeningocele: a nationwide cohort study

Background: Myelomeningocele (MMC) is highly prevalent in developing countries, and MMC-related neurogenic bladder is an important cause of childhood chronic kidney disease (CKD). This nationwide study aimed to evaluate demographic and clinical features of pediatric patients with MMC in Turkey and risk factors associated with CKD stage 5. Methods: Data from children aged 0–19 years old, living with MMC in 2022, were retrospectively collected from 27 pediatric nephrology centers. Patients > 1 year of age without pre-existing kidney abnormalities were divided into five groups according to eGFR; CKD stages 1–5. Patients on dialysis, kidney transplant recipients, and those with eGFR < 15 ml/min/1.73 m2 but not on kidney replacement therapy at time of study constituted the CKD stage 5 group. Results: A total of 911 (57.8% female) patients were enrolled, most of whom were expectantly managed. Stages 1–4 CKD were found in 34.3%, 4.2%, 4.1%, and 2.4%, respectively. CKD stage 5 was observed in 5.3% of patients at median 13 years old (range 2–18 years). Current age, age at first abnormal DMSA scan, moderate-to-severe trabeculated bladder on US and/or VCUG, and VUR history were independent risk factors for development of CKD stage 5 (OR 0.752; 95%; CI 0.658–0.859; p < 0.001; OR 1.187; 95% CI 1.031–1.367; p = 0.017; OR 10.031; 95% CI 2.210–45.544; p = 0.003; OR 2.722; 95% CI 1.215–6.102; p = 0.015, respectively). Only eight CKD stage 5 patients underwent surgery related to a hostile bladder between 1 and 15 years old. Conclusion: MMC-related CKD is common in childhood in Turkey. A proactive approach to neurogenic bladder management and early protective surgery in selected cases where conservative treatment has failed should be implemented to prevent progressive kidney failure in the pediatric MMC population in our country. Graphical abstract: [Figure not available: see fulltext.