Paternity Cases Research Articles

Patterns in paternal and maternal filicide: A comparative analysis of filicide cases in Turkey.

Filicide is the act of a parent killing their own offspring. Previous studies indicate that there are both commonalities and distinctions between filicides committed by mothers and fathers. The main objective of this study was to compare maternal and paternal filicide with a major focus on clinical and sociodemographic features of perpetrators, incident details, and victims. Filicide cases were examined at the bedded unit of the Expertise Department of Observation of the Council of Forensic Medicine that were referred by the Turkish Ministry of Justice. A total of 51 perpetrators and 57 victims were analyzed from June 2014 to December 2023. The perpetrators were daily face-to-face interviews by psychiatry and forensic medicine physicians. There were significant differences in sociodemographic characteristics and psychiatric conditions between maternal and paternal cases. Female perpetrators tended to be younger, unemployed, mostly targeted younger victims and used asphyxiation to kill, whereas males tended to target older victims and utilized firearms. The most common primary cause of filicide in maternal cases was "unwanted pregnancy," whereas "spousal revenge" and "anger or impulsivity" were predominant in paternal filicides. All perpetrators who were not criminally responsible were mothers, mostly diagnosed with psychotic depression. Unwanted pregnancy, psychotic depression, and postpartum psychosis should be assessed when evaluating risk for mothers, especially for infanticide. The desire for revenge on a spouse, often seen with personality disorders, impulsivity and anger, access to firearms should be screened for risk of paternal filicide, particularly in older victims. Early recognition of these factors can help in implementing prevention strategies.

A rare case of type II tri-allelic inheritance at vWA, SE33, D8S1179, and D13S317 loci demonstrated by STR analysis in paternity testing.

Short tandem repeat (STR) typing has been regularly used in paternity disputes and forensic human identification linked caseworks. Occasionally, forensic scientists come across aberrant allele patterns during STR typing because of mutations, genetic variations, and other abnormalities. The tri-allelic pattern of STR is rare, particularly, the case where this pattern exists at 4 loci. Here, we report the type II tri-allelic patterns observed at vWA, SE33, D8S1179, and D13S317 loci in the product of conception (POC) sample during the course of our regular paternity case investigation. The DNA extracted from the blood samples and tissue of POC were subjected to STR typing for autosomal and sex STR loci using the commercial QIAGEN's Investigator® IDplex Plus Kit and QIAGEN's Investigator® 24plex QS Kit. Capillary electrophoresis was carried out in 3500 and 3500xL Genetic Analyzer Applied Biosystems and genotyped using GeneMapper ID-X Software v1.5 and v1.6. In this case of paternity inclusion, the POC sample displayed type II tri-allelic patterns at vWA (16, 19, 20), SE33 (19, 28.2, 29.2), D13S317 (16, 19, 20), and D8S1179 (10, 13, 17) loci. In addition, the POC displayed an abnormal genotype with a heterozygous peak imbalance (type II-B) of (1:2) pattern at D3S1358, D21S11, and D16S539 loci, of (2:1) pattern at D1S1656, D12S391, D10S1248, D2S1338, D2S441, D18S317, FGA, CSF1PO, and D5S818 loci, and type II-C allelic pattern (one single peak with triplicate height) at D19S433 and DS7820 loci. Understanding of such anomalous genotypes improves the knowledge about tri-allelic pattern of CODIS loci and helps in the appropriate interpretation of the results in STR typing.

Utilizing Massively Parallel Sequencing (MPS) of Human Leukocyte Antigen (HLA) Gene Polymorphism to Assess Relatedness in Deficiency Parentage Testing.

In the realm of DNA testing with legal implications, the reliability and precision of genetic markers play a pivotal role in confirming or negating paternity claims. This study aimed to assess the potential utility of human leukocyte antigen (HLA) gene polymorphism through massively parallel sequencing (MPS) technology as robust forensic markers for parentage testing involving genetic deficiencies. It sought to redefine the significance of HLA genes in this context. Data on autosomal short tandem repeat (aSTR) mutational events across 18 paternity cases involving 16 commonly employed microsatellite loci were presented. In instances where traditional aSTR analysis failed to establish statistical certainty, kinship determination was pursued via HLA genotyping, encompassing the amplification of 17 linked HLA loci. Within the framework of this investigation, phase-resolved genotypes for HLA genes were meticulously generated, resulting in the definition of 34 inherited HLA haplotypes. An impressive total of 274 unique HLA alleles, which were classified at either the field 3 or 4 level, were identified, including the discovery of four novel HLA alleles. Likelihood ratio (LR) values, which indicated the likelihood of the observed data under a true biological relationship versus no relationship, were subsequently calculated. The analysis of the LR values demonstrated that the HLA genes significantly enhanced kinship determination compared with the aSTR analysis. Combining LR values from aSTR markers and HLA loci yielded conclusive outcomes in duo paternity cases, showcasing the potential of HLA genes and MPS technology for deeper insights and diversity in genetic testing. Comprehensive reference databases and high-resolution HLA typing across diverse populations are essential. Reintegrating HLA alleles into forensic identification complements existing markers, creating a potent method for future forensic analysis.

Outcomes of BRCA pre-implantation genetic testing according to the parental mutation origin: a cohort study

BackgroundThe process of gamete formation and early embryonic development involves rapid DNA replication, chromosome segregation and cell division. These processes may be affected by mutations in the BRCA1/2 genes. The aim of this study was to evaluate BRCA mutation inheritance and its effect on early embryonic development according to the parental origin of the mutation. The study question was approached by analyzing in vitro fertilization cycles (IVF) that included pre-implantation testing (PGT-M) for a BRCA gene mutation.MethodsThis retrospective cohort study compared cycles of pre-implantation genetic testing for mutations (PGT-M) between male and female patients diagnosed with BRCA 1/2 mutations (cases), to a control group of two other mutations with dominant inheritance (myotonic dystrophy (MD) and polycystic kidney disease (PKD)). Results were compared according to mutation type and through a generalized linear model analysis.ResultsThe cohort included 88 PGT-M cycles (47 BRCA and 41 non-BRCA) among 50 patients. Maternal and paternal ages at oocyte retrieval were comparable between groups. When tested per cycle, FSH dose, maximum estradiol level, oocytes retrieved, number of zygotes, and number of embryos available for biopsy and affected embryos, were not significantly different among mutation types. All together 444 embryos were biopsied: the rate of affected embryos was comparable between groups. Among BRCA patients, the proportion of affected embryos was similar between maternal and paternal mutation origin (p = 0.24). In a generalized linear model analysis, the relative oocyte yield in maternal BRCA patients was significantly lower (0.7, as related to the non BRCA group)(p < 0.001). Zygote formation and blastulation were not affected by the BRCA gene among paternal cases (P = 0.176 and P = 0.293 respectively), nor by paternal versus maternal BRCA carriage (P = 0.904 and P = 0.149, respectively).ConclusionsBRCA PGT-M cycles performed similarly compared to non-BRCA cycles. Inheritance rate and cycle parameters were not affected by the parental origin of the mutation.

Validation of the Utility of the Genetically Shared Regions of Chromosomes (GD-ICS) Measuring Method in Identifying Complicated Genetic Relatedness.

Relatives share more genomic regions than unrelated individuals, with closer relatives sharing more regions. This concept, paired with the increased availability of high-throughput single nucleotide polymorphism (SNP) genotyping technologies, has made it feasible to measure the shared chromosomal regions between individuals to assess their level of relation to each other. However, such techniques have remained in the conceptual rather than practical stages in terms of applying measures or indices. Recently, we developed an index called "genetic distance-based index of chromosomal sharing (GD-ICS)" utilizing large-scale SNP data from Korean family samples and demonstrated its potential for practical applications in kinship determination. In the current study, we present validation results from various real cases demonstrating the utility of this method in resolving complex familial relationships where information obtained from traditional short tandem repeats (STRs) or lineage markers is inconclusive. We obtained large-scale SNP data through microarray analysis from Korean individuals involving 13 kinship cases and calculated GD-ICS values using the method described in our previous study. Based on the GD-ICS reference constructed for Korean families, each disputed kinship was evaluated and validated using a combination of traditional STRs and lineage markers. The cases comprised those A) that were found to be inconclusive using the traditional approach, B) for which it was difficult to apply traditional testing methods, and C) that were more conclusively resolved using the GD-ICS method. This method has overcome the limitations faced by traditional STRs in kinship testing, particularly in a paternity case with STR mutational events and in confirming distant kinship where the individual of interest is unavailable for testing. It has also been demonstrated to be effective in identifying various relationships without specific presumptions and in confirming a lack of genetic relatedness between individuals. This method has been proven effective in identifying familial relationships across diverse complex and practical scenarios. It is not only useful when traditional testing methods fail to provide conclusive results, but it also enhances the resolution of challenging kinship cases, which suggests its applicability in various types of practical casework.

An Economic Model of Media Ethics

Ethics and economic profits are considered to be trade-offs to one another. Akin to other disciplines, private media face the same dilemma. Pursuing more economic profit through increased viewership, advertising rates, or other practices usually comes at the cost of diminished ethical compliance. However, many studies highlight the importance of ethical guidelines in increasing revenues and profits in media organizations. This article aims to reconcile previous scholarship on the subject and develop an economic model of media ethics. The model is based on the literature and methodology of public economics, particularly that of public goods and externalities. It predicts that private media firms, when left to the perfectly competitive market, produce a greater quantity of news that may not be socially desirable and is of low quality and poor ethical compliance. When the social cost of producing ethical and quality media products is considered, the revenue of the private firms decreases, thereby suggesting an inverse relationship between ethical compliance and profits. This demands a case for libertarian paternalism, nudges, or incentives to restore private firms to the socially optimal equilibrium to ensure independent, ethical, free, and sustainable media.

Differences of circular RNA expression profiles between monozygotic twins' blood, with the forensic application in bloodstain and saliva

Monozygotic twins (MZTs) possess identical genomic DNA sequences and are usually indistinguishable through routine forensic DNA typing methods, which can be relevant in criminal and paternity cases. Recently, novel epigenetic methods involving DNA methylation and microRNA analysis have been introduced to differentiate MZTs. In this study, we explore the potential of using epigenetic markers, specifically circular RNAs (circRNAs), a type of non-coding RNA (ncRNA), to identify MZTs, and investigate the unique expression patterns of circRNAs within pairs of MZTs, enabling effective differentiation. Epigenetics regulates gene expression at the post-transcriptional level and plays a crucial role in cell growth and aging. CircRNAs, a recently characterized subclass of ncRNA, have a distinct covalent loop structure without the typical 5′ cap or 3′ tail. They have been reported to modulate various cellular processes and play roles in embryogenesis and eukaryotic development. To achieve this, we conducted a comprehensive circRNA sequencing analysis (circRNA-seq) using total RNA extracted from the blood samples of five pairs of MZTs. We identified a total of 15,257 circRNAs in all MZTs using circRNA-seq. Among them, 3, 21, 338, and 2967 differentially expressed circRNAs (DEcircRNAs) were shared among five, four, three, and two pairs of MZTs, respectively. Subsequently, we validated twelve selected DEcircRNAs using real-time quantitative polymerase chain reaction (RT-qPCR) assays, which included hsa_circ_0004724, hsa_circ_0054196, hsa_circ_004964, hsa_circ_0000591, hsa_circ_0005077, hsa_circ_0054853, hsa_circ_0054716, hsa_circ_0002302, hsa_circ_0004482, hsa_circ_0001103, novel_circ_0030288 and novel_circ_0056831. Among them, hsa_circ_0005077 and hsa_circ_0004482 exhibited the best performance, showing differences in 7 out of 10 pairs of MZTs. These twelve differentially expressed circRNAs also demonstrated strong discriminative power when tested on saliva samples from 10 pairs of MZTs. Notably, hsa_circ_0004724 displayed differential expression in 8 out of 10 pairs of MZTs in their saliva. Additionally, we evaluated the detection sensitivity, longitudinal temporal stability, and suitability for aged bloodstains of these twelve DEcircRNAs in forensic scenarios. Our findings highlight the potential of circRNAs as molecular markers for distinguishing MZTs, emphasizing their suitability for forensic application.

The Concept of Lineage, Types of Lineage and a General Evaluation of the Establishment of Lineage

The aim of this study is to examine the legal and bioethical problems that arise in the field of lineage in our Civil Law. While these problems were examined, the concept of lineage, its types, the establishment of paternity and its provisions were discussed theoretically. Comparisons were made to better understand the development of the problems. With the entry into force of the new Turkish Civil Code(TCC) No. 4721 on January 1, 2002, very important changes were made. One of the most important changes among these changes is the changes made in the field of "lineage Law". With our new Civil Code, the concepts of valid lineage and non-authentic lineage have been abolished and only the concept of "lineage" has been included. An attempt has been made to envisage common provisions between the child born within marriage and the child born outside of marriage and to minimize privileges. In order for the provisions of lineage regulated in Articles(art.) 321-334 of the Turkish Civil Code to be implemented, lineage must be established between the child and the mother and father. In order to establish lineage in the Turkish Civil Code, a blood bond or an adoption relationship is required between the child and his/her parents. Family lineage based on blood ties; birth from the mother's side, paternal lineage between the child and the father; It can be established through marriage with the mother, recognition, judgement, and adoption. Paternity case; It is filed by the mother and/or the child against the man who is claimed to be the biological father of the child. If the child has a lineage relationship with another man, a lineage relationship cannot be established between the biological father and the child by recognition. In terms of the provisions of paternity in the Turkish Civil Code, no distinction is made according to the way in which the filiation based on blood ties was established between a person and his parents, and whether the person was born within or outside of marriage. Children born within marriage and children born outside of marriage are considered equal in rights and duties in terms of their relations with their parents and are subject to the same provisions. These provisions of the Turkish Civil Code regarding paternity are also applied to the adopted child in cases where there is no special provision regarding adoption. In the study, although it is not very detailed, it has been tried to clarify the solution of the problems related to the determination of lineage by making use of the new Civil Code and the views in the doctrine.

Analysis of short tandem repeat mutations in paternity cases from Masovian Voivodeship provinces form years 2018-2022 based on materials of the Department of Forensic Medicine, Medical University of Warsaw.

In paternity cases, genetic tests are of great importance as they allow to exclude or confirm paternity. As a result of paternity tests we can also obtain information on the frequency of short tandem repeat mutations, which are important in the statistical analysis of test results. A total of 468 cases of full paternity trios (mother, child and alleged father) were analysed from years 2018 - 2022 from the central part of Poland. For further analysis of the occurrence of the mutation 346 cases in which paternity was confirmed were qualified. DNA analysis was performed using the PowerPlex®Fusion 6C kit (Promega, USA). 36 mutations were observed in 13 of the 23 genetic markers analysed. 94.44% were one-step mutations and 5.56% were two-step mutations. Among those mutations, there were 18 insertions and 10 deletions, while in 8 cases it was not possible to determine whether an insertion or deletion occurred. There was also a significantly higher share of the father mutation in relation to the mother mutation at a ratio of 4.17:1.

Analysis of 27 Y-chromosomal STR loci of the Mestizo Peruvian population

BackgroundY-chromosome-specific short tandem repeat markers reside on the non-recombinant portion of the Y chromosome and are paternally inherited. These properties make Y-STRs a useful tool in investigations of sexual assault and other violent crimes, paternity cases, genealogical testing, and evolutionary studies. Native populations reside in the Peruvian coast, mountains, and jungle; however, the Mestizos are the largest population group in Peru.ResultsOf the 290 samples, 283 distinct haplotypes were observed. Gene diversities for each Y-STR marker ranged from 0.4271 to 0.8597. The haplotype diversity for the total sample was 0.9964.ConclusionsGenetic affinity was identified between the Peruvian Mestizo population and other Peruvian populations (except Jivaro, Awajun, and Shipibo-Conibo populations) and Bolivian Mestizo populations using multidimensional scaling and phylogenetic tree analysis

Competition and Career Advancement

Abstract In standard promotion tournaments, contestants are ranked based on their output or productivity. We argue that workers' career progression may also depend on their relative rankings in dimensions a priori unrelated to their job performance, such as visibility or in-person presence. Such implicit tournaments may rationalize a variety of seemingly counterproductive practices in the workplace, including long working hours, low uptake of statutory leave, and presenteeism. We illustrate the significance of implicit tournaments using the case of paternity leave among new fathers, where we exogenously vary a focal worker's ranking within a contest, not via his own leave status but that of his competitors, exploiting a policy reform. We show that the focal worker is put on a better earnings trajectory than otherwise when a larger share of his competitors take leave because of the reform. The focal worker's own absolute leave, however, has no direct effect on his earnings path as long as his own and his competitors' leave statuses are symmetric. With effective coordination, it should thus be possible for all fathers to utilize paternity leave without incurring unwarranted career costs. This has implications for statutory leave policies, flexible work arrangements, and gender equality.

Deoxyribonucleic acid test results in both paternity cases and assisted reproductions: rebuttals of the presumption of legitimacy under Section 165 of the “Nigerian Evidence Act”, 2011?

Section 165 of the Nigerian Evidence Act, 2011, presumes the legitimacy of a child given birth to during the existence of a valid marriage between the mother of such a child and any man, or within 280 days after the dissolution of any such marriage - if the mother remains unmarried after the dissolution of the marriage. Being a presumption, the legitimacy of such a child may be displaced upon adducing credible evidence to prove that the child is not fathered by the man during the continuance of the marriage or within 280 days immediately after the dissolution of the marriage. This Article therefore, discusses the use of Deoxy Ribonucleic Acid tests results to rebut the presumption of legitimacy in Section 165 of the Evidence Act using paternity cases and In Vitro Fertilization of embryos, particularly where there are medical mistakes or malpractices by clinicians and embryologists. Keywords: Deoxyribonucleic Acid; Paternity; In Vitro Fertilization; Presumption; Evidence Act

Verification of a loss of heterozygosity at the D8S1179 locus in a paternity case by the MiSeq FGx system.

Capillary electrophoresis is widely used to study short tandem repeats (STRs) in forensic genetics. However, next-generation sequencing platforms have become a new strategy for forensic DNA typing. In this study, we report a false four-step STR mutation between an alleged father (AF) and child in a paternity case. A total of 23 autosomal STR loci were evaluated using the Huaxia™ Platinum and Goldeneye™ 20A kits, revealing a single mismatch in D8S1179 between the AF (10/10) and the male child (14/14). Additional Y-STR typing of the AF and child was performed, and the results were consistent with those based on 27 Y-STR loci. To further confirm the experimental results, we sequenced the individuals using the MiSeq FGx system and detected 10/15 unbalanced alleles in the D8S1179 locus of the AF and 14/15 unbalanced alleles in the D8S1179 locus of the child. Sanger sequencing revealed that both the AF and child had the C→G point mutation in the primer binding region of D8S1179 resulting in allelic dropout. Therefore, the verification of STR typing by different sequencing systems is helpful for the interpretation of results in cases of multistep STR mutations.

The influence of growth and sex hormones on risk of alzheimer's disease: a mendelian randomization study.

Alzheimer's disease is more prevalent in women, possibly due to sex or growth hormones but existing evidence is inconclusive. We investigated whether genetically predicted sex and growth hormones are associated with risk of Alzheimer's disease. Genetic variants strongly and independently predicting insulin-like growth factor 1 (IGF-1), testosterone and sex hormone-binding globulin (SHBG) were obtained from large, published genome wide associations studies (GWAS) and applied to GWAS of Alzheimer's disease based on clinical diagnosis (cases = 21,982, control = 41,944) from the International Genomics of Alzheimer's Project and the UK Biobank parental (maternal cases = 27,696; paternal cases = 14,338) and siblings' diagnosis (cases = 2,171) as proxy cases. Published GWAS summary statistics were used in our analyses. Estimates were obtained from inverse variance weighting with sensitivity analysis (i.e., MR-Egger, weighted median and MR-PRESSO). Multivariable analyses adjusted for pleiotropic effects and possible sources of selection bias were also performed. Genetically predicted higher total testosterone may reduce the risk of paternal Alzheimer's disease (odds ratio (OR) 0.86, 95% confidence interval (CI) 0.76 to 0.97, per SD increase in testosterone) and in meta-analysis for women (OR 0.92, 95% CI 0.87, 0.98) with directionally similar results from other analyses. SHBG were not associated with Alzheimer's disease. IGF-1 in women was inversely associated with risk of clinical Alzheimer's disease in sensitivity analysis but not in the main analysis. These results suggest genetically predicted higher total testosterone may lower risk of Alzheimer's disease. The role of testosterone and the immune system in Alzheimer's disease could be further investigated.

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

Following the diagnosis of a paediatric disorder caused by an apparently de novo mutation, a recurrence risk of 1–2% is frequently quoted due to the possibility of parental germline mosaicism; but for any specific couple, this figure is usually incorrect. We present a systematic approach to providing individualized recurrence risk. By combining locus-specific sequencing of multiple tissues to detect occult mosaicism with long-read sequencing to determine the parent-of-origin of the mutation, we show that we can stratify the majority of couples into one of seven discrete categories associated with substantially different risks to future offspring. Among 58 families with a single affected offspring (representing 59 de novo mutations in 49 genes), the recurrence risk for 35 (59%) was decreased below 0.1%, but increased owing to parental mixed mosaicism for 5 (9%)—that could be quantified in semen for paternal cases (recurrence risks of 5.6–12.1%). Implementation of this strategy offers the prospect of driving a major transformation in the practice of genetic counselling.

Thousands of years of Malay and Chinese population history in Indonesia and its implication on Paternity Index in DNA paternity testing

The existence of the Chinese population in the predominantly Malay population in Indonesia can be traced back thousands of years, and it has been suspected that it played an essential role in the history of the Malay population origin in Maritime South East Asia. With the fact that the Malay-Indonesian population is currently predominant compared to the Chinese population in Indonesia (Chinese-Indonesian), the selection of the origin of the STRs allele frequency panel population becomes an issue in DNA profiling, including in paternity testing. This study analyses the genetic relationship between the Chinese-Indonesian and Malay-Indonesian populations and how this affects the Paternity Index (PI) ​​calculation in paternity test cases. The study of the relationship between populations was carried out using neighbour-joining (NJ) tree analysis and multidimensional scaling (MDS) on the allele frequency panel of 19 autosomal STRs loci of Malay-Indonesian (n = 210) and Chinese-Indonesian (n = 78) populations. Four population groups were used as references: Malay-Malaysian, Filipino, Chinese, and Caucasian. An MDS analysis was also performed based on the pairwise FST calculation. The combined Paternity Index (CPI) calculation was carried out on 132 paternity cases from the Malay-Indonesian population with inclusive results using a panel of allele frequencies from the six populations. The pairwise FST MDS indicates a closer relationship between the Chinese-Indonesian and Malay-Indonesian compared to the Chinese population, which is in line with the CPIs comparison test. The outcome suggests that the alternative use of allele frequency database between Malay-Indonesian and Chinese-Indonesian for CPI calculations is not very influential. These results can also be considered in studying the extent of genetic assimilation between the two populations. In addition, these results support the robustness claim of multivariate analysis to represent phenomena that phylogenetic analyses may not be able to demonstrate, especially for massive panel data.

African ancestry GWAS of dementia in a large military cohort identifies significant risk loci.

While genome wide association studies (GWASs) of Alzheimer's Disease (AD) in European (EUR) ancestry cohorts have identified approximately 83 potentially independent AD risk loci, progress in non-European populations has lagged. In this study, data from the Million Veteran Program (MVP), a biobank which includes genetic data from more than 650,000 US Veteran participants, was used to examine dementia genetics in an African descent (AFR) cohort. A GWAS of Alzheimer's disease and related dementias (ADRD), an expanded AD phenotype including dementias such as vascular and non-specific dementia that included 4012 cases and 18,435 controls age 60+ in AFR MVP participants was performed. A proxy dementia GWAS based on survey-reported parental AD or dementia (n = 4385 maternal cases, 2256 paternal cases, and 45,970 controls) was also performed. These two GWASs were meta-analyzed, and then subsequently compared and meta-analyzed with the results from a previous AFR AD GWAS from the Alzheimer's Disease Genetics Consortium (ADGC). A meta-analysis of common variants across the MVP ADRD and proxy GWASs yielded GWAS significant associations in the region of APOE (p = 2.48 × 10-101), in ROBO1 (rs11919682, p = 1.63 × 10-8), and RNA RP11-340A13.2 (rs148433063, p = 8.56 × 10-9). The MVP/ADGC meta-analysis yielded additional significant SNPs near known AD risk genes TREM2 (rs73427293, p = 2.95 × 10-9), CD2AP (rs7738720, p = 1.14 × 10-9), and ABCA7 (rs73505251, p = 3.26 × 10-10), although the peak variants observed in these genes differed from those previously reported in EUR and AFR cohorts. Of the genes in or near suggestive or genome-wide significant associated variants, nine (CDA, SH2D5, DCBLD1, EML6, GOPC, ABCA7, ROS1, TMCO4, and TREM2) were differentially expressed in the brains of AD cases and controls. This represents the largest AFR GWAS of AD and dementia, finding non-APOE GWAS-significant common SNPs associated with dementia. Increasing representation of AFR participants is an important priority in genetic studies and may lead to increased insight into AD pathophysiology and reduce health disparities.

A Million Veteran Program GWAS of Alzheimer’s Disease and Related Dementias in African Americans Identifies Multiple Genome‐Wide Significant Dementia Risk Loci

AbstractBackgroundWhile genome wide association studies (GWASs) of Alzheimer’s Disease (AD) in European ancestry cohorts (EUR) have identified &gt;70 potentially independent AD risk loci, progress in non‐European populations has lagged. In this study, data from US Veterans of African ancestry (AFR) from the Million Veteran Program (MVP) biorepository were used to identify genetic factors associated with AD and related dementias (ADRD).MethodUsing the VA electronic medical record, 4,012 AFR ADRD cases (algorithm includes codes for AD and dementias such as vascular dementia) and 18,435 dementia‐free AFR controls were identified for inclusion in the GWAS. A GWAS was also performed using proxy dementia based on survey‐reported AFR participant parental history of AD or other dementia that included 4,385 maternal cases, 2,256 paternal cases, and 45,970 controls. Meta‐analysis of the case control and proxy results for was performed and then subsequently combined with results from a AFR AD GWAS conducted by the Alzheimer Disease Genetics Consortium (ADGC; Kunkle et al., 2021).ResultThe AFR MVP GWAS (case‐control + proxy) yielded genome‐wide significant associations with several loci including APOE (p=2.48x10‐101), ROBO1 (rs11919682, p=1.63x10‐8), and RP11‐340A13.2 (rs148433063, p=8.56x10‐9. The ROBO1 and RP11‐240A13.2 SNPs were not replicated in the ADGC sample (missing or not significant). The meta‐analysis of MVP and ADGC GWAS results (Table 1) additionally identified genome significant SNPs near known AD risk genes TREM2 (rs73427293, p=2.95x10‐9), CD2AP (rs7738720, p=1.14x10‐9), and ABCA7 (rs73505251, p=3.26x10‐10). Comparison of expression of genes near variants with suggestive evidence of association (p&lt;5x10‐7) in the brains of EUR AD cases and controls from Framingham Heart Study, Religious Orders Study/Rush Memory and Aging Project, Mayo‐Mount Sinai Brain Bank, and Boston University Brain Bank (Panitch et al.) identified several differentially expressed genes including EML6.ConclusionThe AFR dementia GWAS presented here is the largest to date. It increased the number of genome wide significant common‐variant dementia loci reported in AFR cohorts from two to six, including genes previously implicated in EUR cohorts. Increasing representation of AFRs is an important priority in genetic studies and may lead to increased insight into AD pathophysiology and reduce health disparities.

Blood Groups ABO and Rh System Among Paternity and Kinship Cases of Iraqi Medical Legal Directorate

ABO and Rh are the most important blood group systems with various distributions reported for different populations. Traditional ABO blood group and Rh serology is based on the immunoreactivity of antisera with the carbohydrate A, B and H antigens on Red Blood Cells (RBC). Due to its medical importance in relation to different diseases, pursuing a line of investigation on the ABO and Rh blood group systems has been of significance for years. It is well known that these blood group systems are of great importance in blood transfusion and organ transplantation. Furthermore, the susceptibility to several diseases has been associated with the ABO phenotype, but such correlation remains controversial. Progress in the molecular biology of the ABO system has recognized the molecular basis of the red blood cell antigens and has provided a genetic model for ABO polymorphism at the molecular level. The ABH antigens are not primary gene product, but they are the enzymatic reaction product of enzymes called glycosyltransferases. After the ABO system, the Rh (Rhesus) blood group system is regarded as the second most important blood group system, as some of the severe hemolytic transfusion reactions and most hemolytic disease of the fetus and new born (HDFN) cases are associated with antibodies to the Rh group antigens. Objectives: To determine ABO blood group and Rh factor phenotype antigens frequency, distribution, and document among paternity cases of Iraqi Medical Legal Directorate / Clinical Forensic Department / paternity and kinship division. Materials and Methods: The material and methods were used ABO and Rh kits for detection phenotype antigens of this blood types, the principle of test is one step immunological reaction. Total samples (1997) were referred to medical Legal Directorate (MLD). Out of the total participants there were 1815 (98.4%) of samples complete information for inclusion criteria. the sample were used for estimation of phenotypic distribution of ABO, Rh. ABO blood group serology was performed at MLD, Paternity and Kinship Division using commercially available monoclonal Anti-A, Anti-B, reagents according to the national blood bank standard operating procedures. The Method principle is based on antigen antibody reaction (agglutination) some tests were confirmed under microscope examination to see weak reaction. Results: The most common blood group was O (52.3%) and the least common was AB (3.18%).97.7% of the blood participants were Rh Positive and the rest were Rh Negative. Most participants were young adults, representing the age group of 19 – 29. Most participants were male (88.1%). Conclusion: Blood group O and Rh+ factor was dominant in both sexes, Up-to-date knowledge of the distribution of blood types in a local setting is critical to the functioning of any national health service. To date, there has been a lack of data in Iraqi population.

Deconvolution rules a tool to solve a complex paternity case where child was chimeric

STR-autosomal markers are among the most powerful systems to solve kinship attribution cases. The Y-STR chromosome analysis is another widely accepted system to confirm the parental relation alleged father-son. Here, we show an unusual Civil trial where a woman (VE) wanted to know whether a man (MR) was the father of her child (VM). Four years earlier, the child had been hospitalised in a Paediatric Onco-Haematology department. He had haematopoietic stem cell transplantation (HSCT) for a leukaemia disease. His mother was the donor.