Background: Fertility disorders have been a significant issue affecting populations for decades. According to the World Health Organization (WHO), this issue affects approximately 17.5% of the adult population roughly one in six people worldwide. Method: This was a descriptive cross-sectional study conducted over a seven-year period at the Cotonou cytogenetics laboratory. The study aimed to highlight the impact of chromosomal translocations on couple fertility. Participants included patients found to have a chromosomal translocation via karyotyping during an infertility workup. Patients whose karyotypes revealed abnormalities other than chromosomal translocations were excluded from the study. Conventional cytogenetic techniques were employed; specifically, G-banded metaphase karyotyping was performed using lymphocyte cultures incubated at 37°C for 72 hours. Results: A total of 36 cases of chromosomal translocations were identified. The genotypes involved 31 cases of Robertsonian translocations (88.9%) and 5 cases of reciprocal translocations (11.1%). Balanced Robertsonian translocations were found in 22 female patients during investigations into reproductive disorders. One case of a balanced homologous Robertsonian translocation was recorded in a patient with a history of recurrent miscarriages. Discussion: Chromosomal translocations whether balanced or unbalanced significantly impact couple fertility due to associated gamete and embryonic development abnormalities. Given this, would it not be beneficial to include karyotyping in prenuptial health screenings?
Cassava ( Manihot esculenta Crantz ) is a vital staple crop in sub-Saharan Africa, underpinning food security, rural livelihoods, and agro-industrial development. Despite its resilience to marginal soils and drought, cassava productivity is severely constrained by viral and bacterial diseases, notably cassava mosaic disease (CMD), cassava brown streak disease (CBSD), and cassava bacterial light (CBB). Conventional breeding approaches for disease resistance remain limited by long phenotyping cycles, genotype-by-environment interactions, and inadequate spatial integration. This review highlights the emerging role of geospatial genomics, an interdisciplinary framework that integrates Geographic Information Systems (GIS), remote sensing, and genomic tools to accelerate cassava improvement. GIS enables spatial mapping of disease incidence and environmental gradients, while remote sensing technologies such as satellite indices and drone-based hyperspectral imaging provide real-time crop health monitoring. Advances in genomics, including SNP genotyping, genotyping-by-sequencing, and marker-assisted selection, facilitate the identification of resistance loci and predictive breeding. Integrating spatial datasets with genomic information through environmental association analyses enhances understanding of genotype-environment interactions and supports climate-resilient breeding strategies. Applications of geospatial genomics in cassava include disease surveillance, predictive modeling of outbreaks, targeted germplasm deployment, and improved selection efficiency across diverse agro-ecological zones. Through linking environmental variability, disease dynamics, and genetic diversity, geospatial genomics offers a comprehensive pathway to develop disease-resistant cassava varieties, thereby strengthening food security and sustainable agriculture in Africa.
Y-chromosome short tandem repeats (Y-STRs) are widely used in forensic investigations, including sexual assault cases, paternity testing, and disaster victim identification. Despite their usefulness, conventional Y-STRs with low mutation have limitations in distinguishing males within the same paternal lineages. The development of Rapid Mutating Y-Chromosome Short Tandem Repeats with a mutation rate of 10 -2 has enhanced the capacity of differentiating related males. This study aimed to characterize the mutation rate and pattern of 26 Rapidly Mutating Y-Chromosome Short Tandem Repeat (RM Y-STR) loci in Tanzania where population-specific data are lacking for local casework. 138 DNA confirmed unrelated father-son pairs from consented individuals in Dar es Salaam were analyzed. Genomic DNA was extracted using the Chelex 100 method, amplified with the Microreader™ 26 RM-Yplex Amplification Kit, and analyzed by capillary electrophoresis. Mutation events were identified by comparing allele profiles between father and son across all loci. A total of 34 mutations were observed, with the most occurring at a single locus following a stepwise mutation model with a 59% gain and a 41% loss of alleles. DYF399S1 exhibited the highest locus-specific mutation rate (6.5 × 10 -2 ; 95% CI: 3.0 × 10 -2 –1.22 × 10⁻¹), while the overall mutation rate across loci was 1.0 × 10 -2 (95% CI: 6.0 × 10 -3 to 1.3 × 10 -2 ), consistent with global estimates. These results establish RM Y-STRs as a powerful forensic tool for discriminating paternally related males in Tanzania, filling a critical data gap for local casework.
Prostate tumors are more common worldwide, with 60% of men over the age of 50 affected by benign prostatic hyperplasia (BPH) and 1.5 million new cases and 397,000 deaths from prostate cancer (PCa), which ranks as the second most common cancer globally. Although age is the most significant factor, other factors are associated with their development, and genetic factors appear to play a major role. This study aimed to evaluate the involvement of TP53 gene mutations in cases of prostate tumors among Senegalese men while contributing to the understanding of the mutational link between the two tumors. sixteen BPH tissue samples and seventeen PCa tissue samples were collected via biopsy from Senegalese patients following informed consent. DNA extraction followed by PCR amplification and sequencing were performed. Mutation Surveyor was used to identify mutations. Mutation Taster, Polyphen-2, SIFT, and SNP & GO were used to assess pathogenicity predictions. I-Mutant2, MuPro, and Dynamut2 were used to predict the stability, flexibility, and dynamics of the mutated p53 protein. MutPred2 and Mutation3D were used to predict physicochemical properties and map risk mutations. Variability, diversity, and genetic structure were determined using MEGA, BioEdit, DnaSP, and Arlequin. A total of 32 TP53 mutations were identified in the two tumors. These mutations were predominant in prostate cancer. No mutations shared between the two tumor types were found; however, shared mutations within each tumor type were observed, particularly one mutation (c.652G>A p.218Val>Met) present in all prostate cancer patients. Most non-synonymous mutations are predicted to be pathogenic and destabilizing for the mutated p53 protein in both tumors. Low polymorphism and a short genetic distance were observed between the two prostate tumors. This study provided insight into the potential impact of TP53 gene mutations on prostate tumors. Despite their low frequency in the Senegalese population, which may be explained by the small sample size, they play a role in the development and aggressiveness of prostate tumors. Therefore, special attention is required in patients carrying these mutations, particularly for the c.652G>A p.218Val>Met mutation, as the latter could influence management.
Intellectual disability (ID), a widely prevalent condition is a neurodevelopmental condition which encompasses diverse causes, both genetic and non-genetic. They most commonly show symptoms of delayed milestones, limited motor skills, unwarranted emotional changes, difficulty in learning new skills and poor memory. Genetic causes usually accounting up to 50%, most frequently includes chromosomal (structural and numerical), monogenic and de novo variants. Advancements in genetic testing options have enabled early diagnosis, minimizing complications and preventing further hereditary transmission. Genetic tests, such as karyotyping, chromosomal microarray (CMA), Next-Generation Sequencing (NGS) and various molecular assays like Multiplex Ligation-dependent Probe Amplification (MLPA), Methylation Specific polymerase chain reaction (MS-PCR) are available in contemporary healthcare settings for timely diagnosis. This study focuses on individuals with Intellectual disability (ID), who require support for diagnosis and rehabilitation and are visiting the National Institute for the Empowerment of Persons with Intellectual Disabilities (NIEPID) for therapy and are referred for genetic testing and genetic counseling. The paper also analyzes the reasons for diagnostic delays and gaps in genetic counseling, affecting the treatment and management. It also advocates for collective efforts to enhance awareness, potentially reduce costs and improve accessibility for testing, paving the way for a future grounded in precise management and preventative medicine.
Understanding genetic diversity and germplasm classification through agro-morphological characterization is fundamental in order to provide information for genetic resources conservation and breeding programs. The overall objective of this study was to assess the genetic variability of watermelon varieties cultivated in Cameroon. Five watermelon (Citrullus lanatus) genotypes were evaluated for genetic variability, heritability, and genetic advance for yield and its contributing characters in watermelon during 2017. Analysis of variance showed significant variation for all the studied characters, indicating the presence of sufficient variability in the material. Germination rates of the five varieties vary from 61.11 ± 5.82 to 90.71 ± 1.12% for Sugar Baby and Kaolack. Emergence time ranges from 7.03 ± 0.87 (Kaolack) to 8.73 ± 1.03 (Koloss), while flowering time varies from 28.27 ± 0.45 (Crimson Sweet) to 36.24 ± 0.32 (Sugar Baby) days. The number of fruits (fruit count) show that Kaolack has the highest number of fruits per plant (3.55 ± 0.89), followed by Crimson Sweet (3.32 ± 0.5) while Koloss presents the lowest number of fruits per plant (2.12 ± 0.27). Of the 45 correlations performed, 26 were negative and 19 were positive. All negative correlations were not significant at the 5% level, while 5 positive correlations were significant. This result shows that length of fruit is correlated with weight of fruit (0.99) and weight of one hundred seeds (0.88). Moreover, the correlation between these two fruit characteristics (weight of fruit and length of fruit) appeared strong and positive (0.92). The phenotypic coefficient of variation ranged from 20.35 to 201.49 for the seed shape and weight of fruit parameters, respectively, while the genotypic coefficient of variation ranged from 17.72 to 198.65 for the same traits, respectively. All the traits studied showed that the phenotypic variance was higher than the genotypic variance. High broad-sense heritability coupled with moderate-high genetic advance was recorded for weight of one hundred seeds (11.63), while high broad-sense heritability associated with low genetic advance values was obtained for seed shape (0.21), seedling emergence time (5.89), and number of fruits per plant (6.43). Only the first two axes of the principal component analysis were taken into account because they explained about 92.31% of the variation observed in the varieties. The main parameters associated with these two axes were weight of fruit, length of fruit, flowering time, weight of one hundred seeds and life cycle. Based on the variation, 5 genotypes were grouped into three classes using the K-means classification. Further studies involving biochemical and molecular markers are recommended for deeper characterization.
Background WHO reports in 2024 revealed that breast cancer affects women of all ages from puberty onward, with incidence increasing with age. Approximately 2.3 million new cases were recorded. In 2022, this disease caused 670,000 deaths worldwide. Low-penetrance genes, although not systematically associated with a high risk of breast cancer, appear to play an important role. These genes, frequently mutated in the general population, contribute significantly to breast cancer susceptibility, particularly when they interact with environmental factors or other genetic mutations. This study aims to evaluate the involvement of MT-CYB gene mutations in the progression of breast cancer among Chadian women. Methods We analyzed the variability of the MT-CYB gene in 43 patients using the PCR-sequencing technique. First, raw sequencing data were processed through the Mutation Surveyor software, which compares submitted chromatograms with the reference sequence. Next, we identified present mutations and assessed their potential impact on pathogenicity. Results Our findings highlight the potential role of the MT-CYB gene in the development of breast cancer in Chadian women. We identified 53 mutations, including 21 (39.62%) homozygous and 32 (60.37%) heterozygous mutations. Among them, 14 were already listed in the dbSNP database, while 39 were novel, with the majority found in cancerous tissues. Among these mutations, 69.81% (37/53) were non-synonymous substitutions, resulting in an amino acid change in 86.04% (37/43) of cases. Pathogenicity analysis revealed that 48.64% (18/37) were potentially deleterious, while 51.35% (19/37) were classified as neutral polymorphisms according to prediction software that considers protein structure. A detailed evaluation of the non-synonymous mutations showed that, of the 37 analyzed, 67.56% (25/37) were considered pathogenic, and 32.43% (12/37) were deemed benign. Conclusion These results highlight the crucial importance of prevention, early detection and genetic research to better understand and treat breast cancer.
Diabetes mellitus and albinism are two distinct genetic conditions that have been observed in human populations, including families in the District of Karak. This study aims to explore the prevalence and genetic mutations associated with these conditions within this specific demographic. Diabetes mellitus, characterized by chronic hyperglycemia and insulin resistance, has a multifactorial etiology with both genetic and environmental components. Albinism, on the other hand, results from mutations in genes responsible for melanin production, leading to hypopigmentation of the skin, hair, and eyes. Diabetes Mellitus is more common in adult as compared to children. During diabetes Mellitus the patient show lot of symptoms such as weight loss, polyuria, polydipsia sometime with blurred vision and polyphagia etc. are reported in patient of diabetes mellitus second disorder which we studied is Albinism which is a heterogeneous group of autosomal recessive disorder which is mainly characterized by abnormalities low amount of melanin in the skin, hair, eyes etc. It means that if the melanin are not produced in sufficient amount it will cause albinism this diseases is very rare but it is mainly caused by different gene mutation. The people with oculocutaneous albinism have pale skin, sandy colour hair, light brown eyes, nystgmus and poor visual activies. Genetic studies of albinism reported that seven non-syndromic OCA genes among which mutation in TYR and OCA genes mutation is mainly reported. This research project was aimed to study pedigree analysis of genetic mutation for autosomal dominant diabetes mellitus and X-linked autosomal recessive albinism in human families of district karak. The two family have been reported one of diabetes mellitus and one of albinism so the detail interviewed were conducted with all the affected individual their parents and normal individual of the family. Pedigree analysis and family tree was drawn to check the linkage for results.
Down syndrome (DS), caused by trisomy of chromosome 21, exhibits significant phenotypic variability, including intellectual disability, early-onset Alzheimer disease (AD), congenital heart defects (CHDs), haematological malignancies, and immune dysregulation. While gene dosage effects have long been recognized, emerging evidence suggests that additional genetic variants contribute to individual differences in disease susceptibility and clinical outcomes. In this context, we reviewed genetic variants associated with DS phenotypes, aiming to elucidate genotype–phenotype correlations and explore their potential clinical applications in precision medicine. To achieve this, we analyzed literature published between 2000 and 2024 from databases such as PubMed, Scopus, and Web of Science, focusing on studies utilizing next-generation sequencing (NGS), whole exome sequencing (WES), genome-wide association studies (GWAS), and transcriptomic profiling to identify critical genetic alterations and gene networks associated with DS-related conditions. Our review highlights that variants in APP and BACE2 influence Aβ metabolism and contribute to AD risk in DS, while APOE and PICALM variants are implicated in neurodegeneration. CHDs are associated with variants in CRELD1, COL6A1/2, and other genes involved in extracellular matrix (ECM) organization. Additionally, blood disorders such as myeloid leukaemia in Down syndrome (ML-DS) are linked to mutations in GATA1 and aberrant signalling involving JAK2 and CRLF2. Immune dysregulation in DS appears to be influenced by alterations in IFNAR1/2 and polymorphisms in TRPM2 and OAS1. Collectively, these findings underscore the potential for targeted therapies, including BACE inhibitors, JAK-STAT pathway modulators, and immunomodulatory agents. Ultimately, understanding DS’s complex genetic architecture through integrated multi-omics and clinical profiling holds promise for the development of personalized interventions and the advancement of genotype-informed precision medicine.
Background: The pathophysiology of Prostate Cancer (PCa) involves a complex interplay of environmental and genetic factors. PCa diagnosis faces challenges of false-positive outcomes, emphasizing the necessity for revising the available screening methods for PCa. Single-nucleotide polymorphisms (SNPs) have been linked with PCa and constitute a key risk factor in prostate carcinogenesis. Objective: This research aimed at examining the association between susceptibility to PCa and polymorphisms of the Leptin (LEP) gene -2548 G˃A (rs7799039) and LEP receptor (LEPR) gene 223 A˃G (rs1137101). Methods: A total of 66 patients and 34 controls of a Jordanian population were recruited. DNA was isolated from blood leucocytes. Polymorphism analyses were performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) approaches. Results: The mutant allele (A) and genotype (AA) frequencies of the LEP SNP (-2548 G˃A, rs7799039) were significantly higher in the PCa patients (59.1% and 37.9%, respectively) compared to those in the control group (45.6% and 20.6%, respectively) (P = 0.039; OR = 1.88, 95%CI = 1.02 - 2.89 and P = 0.043; OR = 2.86, 95%CI = 1.77 - 5.92, respectively). This indicates that this SNP was associated with an overall increased risk of PCa. In contrast, the LEPR 223 A˃G was not. Further stratification of the PCa group showed that the incidence of both SNPs was correlated with high serum PSA levels and metastasis risk. The results with age and Gleason biopsy score were not conclusive because the trend observed did not reach significance. Conclusions: The findings support our hypothesis regarding the association of the polymorphism in the LEP gene in prostate carcinogenesis (the A and AA frequencies, compared with the control, were associated with a 1.3-fold and a 1.8-fold increased risk for PCa, respectively. However, there was no association between the LEPR (rs1137101) gene variant and PCa risk.
Zeugodacus cucurbitae or melon fly formerly called Bactrocera cucurbitae is an agricultural pest of Asian origin. Well known as a pest of fleshy fruits and vegetables damaging 81 host plants, the melon fly has been the subject of several studies due to its introduction and dissemination worldwide. Up to now, no study on the global structuring of Zeugodacus cucurbitae has been done. Therefore, knowledge of its genetic structuring would allow better management of the insect. It is in this context that the present study on the genetic characterization of populations of Z. cucurbitae watermelon pest insect fits. Our data was collected from the Genbank database. Phylogeographic analyses were made using mitochondrial cytochrome oxidase I (COI) DNA as a genetic marker. After analysis, the study demonstrated two distinct groups: a group composed of the population of Reunion and another group composed of populations from Africa, Asia, Oceania, and Hawaii. This is the result of a genetic isolation demonstrated by the Mantel Test for which the significant p-value confirms the correlation between genetic distances and geographical distances. However, there is a genetic differentiation between individuals in the Reunion population. For any fight against this insect, it would be interesting to take into account the existence of these two genetic groups.
Male infertility in Pakistan exhibits unique genetic patterns due to high consanguinity rates (65%). This systematic review of 38 studies (2015-2025) analyzed 2,041 participants (1,503 infertile men, 538 controls) using whole-exome sequencing (WES). Key findings reveal distinct genetic causes and inheritance patterns specific to this population. Chromosomal abnormalities affected 20.9% of azoospermic men, primarily Klinefelter syndrome (14.7%). Y-chromosome microdeletions occurred in 8% of cases, mostly in the AZFc region (50%). We identified 72 pathogenic variants across 58 genes, with 70.8% being novel to Pakistani populations. Consanguinity drove homozygous inheritance in 72.2% of cases. The most frequently mutated genes included ADAD2 (30% of non-obstructive azoospermia), HFM1 (20%), and DNAH family members (28.7% of motility defects). Variant types comprised frameshift (38.9%), missense (33.3%), nonsense (16.7%), and splicing mutations (11.1%). Significant biochemical markers included the CAT rs7943316 TT genotype (70.9% vs 14% controls) and elevated oxidative stress markers. These findings establish the first comprehensive genetic profile of Pakistani male infertility, demonstrating the profound impact of consanguinity on disease expression. The results emphasize the need for population-specific diagnostic protocols that prioritize DNAH/CFAP genes for motility disorders and ADAD2 for non-obstructive azoospermia. This review provides critical insights for genetic counseling and clinical management in high-consanguinity populations.
Hypophosphatasia (HPP), a rare metabolic disorder caused by mutations in the ALPL gene, leads to deficient alkaline phosphatase activity and presents unique clinical challenges for adult patients, including fractures, chronic pain, and dental issues. This disorder is often underdiagnosed due to its variable clinical presentation and overlap with other conditions, further complicating timely intervention. Early diagnosis is critical for effective management; however, current diagnostic criteria have limitations, often resulting in delays. Insights from the Global HPP Registry reveal significant disease burden and treatment gaps in treated and untreated adults. These insights underscore the importance of multidisciplinary approaches in addressing HPP-related complications, including musculoskeletal and systemic manifestations. Enzyme replacement therapy (ERT) with asfotase alfa has proven effective in reducing disease burden and improving quality of life. Recent clinical evidence suggests that ERT not only alleviates symptoms but may also prevent disease progression when initiated early. Emerging therapies and alternative regimens like teriparatide dosing adjustments are being explored for their potential benefits. In addition, advanced imaging modalities and biomarker studies are improving diagnostic accuracy and monitoring of therapeutic outcomes. This comprehensive review highlights the significant challenges and advances in diagnosing and treating HPP in adults. Ongoing research aims to enhance diagnosis and treatment through genetic testing and personalized medicine, focusing on identifying and addressing knowledge gaps to improve care for adult HPP patients. Collaborative efforts between researchers, clinicians, and patient advocacy groups are crucial for driving innovation and improving access to care. Continued research and innovation are essential, and healthcare professionals must stay informed about the latest advancements in HPP diagnosis and treatment to ensure optimal patient care. By addressing these challenges, the field can move closer to improving the lives of adults living with HPP.
Wheat (Triticum spp) is one the most important and strategic cereal crops in Ethiopia, because of its role in food security, import substitution and used as raw material for the agro-processing. Bread wheat is recently cultivated in the lowland irrigated areas of Ethiopia. Despite many improved bread wheat varieties have been released nationally for rainfed areas, the adaptability of these varieties were not identified. To overcome this challenge, adapatabilty evaluation of recently released bread wheat varieties were condudcted to confirm their environmental adaptation across four locations. Systematic growth, yield and yield components, and environmental data were collected and analyzed using standard agronomic and statistical methodologies. The combined analysis of variance indicated that the sixteen tested varieties differed significantly for all traits except for their numbers of kernesl per spike. Variety Boru (4823.5 and 4566.7 kg ha-1), Dursa (4352.9 and 3950 kg ha-1) and Abay (4078.4 and 4433 kg ha-1) stand out as the highest yielders at Werer and Arage respectively, indicating these varaieteis are best adapted and high yielding next to Ga’ambo-2 (chek) (4352.9 and 4388.3 kg ha-1) in Afar region. Varaiety Biftu (3339.2 and 2965.2 kg ha-1), Dursa (2880.4 and 3122.6 kg ha-1) and Deka (2779.4 and 3087.5 kg ha-1) recorded higher gran yield at Jeju and Merti respectively, indicating these varieties were best performing in Oromia region. High combined mean grain yield was recorded from Boru and Dursa variety (3626.22 kgha-1 and 3563.97 kgha-1) following the standard check variety “Gambo-2” (3781.89 kgha-1) suggesting Boru and Dursa could be used as a widely adapted durum wheat variety with high grain yield to enhance wheat cultivation in irrigated lowland of Ethipia. The lowest grain yield was recorded in variety Wane (3006.37 kg ha-1) and Ardi (2368.87 kg ha-1) suggesting, Wane and Ardi may be less adaptable and low yielder.
Soybean (Glycine max (L.) Merrill) is an essential crop in Ethiopia, valued for its role in food production, animal feed, soil fertility improvement, and industrial applications. Despite its growing importance, national average yields remain lower than the global standard due to biotic and abiotic stresses, limited genetic diversity, and the declining potential of released varieties. To address these challenges, the Pawe Agricultural Research Center has introduced and tested various soybean germplasms and commercial varieties from Brazil, the United States, Malawi, and Nigeria since 2010Soybean National variety Adaptation trial comprising of 5 varieties namely; PB12-2, PB12-3, and PB12-9 along with Belessa-95 and Wegayen as a standard check were evaluated at Pawe in 2013 and at Pawe, Humera, Jimma, Assosa, Sirinka and Areka in 2014. Based on the data generated in 2013 and 2014 testing seasons, two promising candidate varieties namely PB12-2 and PB12-3 were selected for their higher grain yield, Number of branches and effective nodules per plant and for other important characters to be verified and evaluated in 2015 cropping season. After extensive multi-location trials, these varieties were officially registered as "Pawe-01" and "Pawe-02" and are now under production in key soybean-growing regions of Ethiopia. Their superior traits make them promising options for enhancing soybean productivity and sustainability in the country.
Durum wheat is one of the industrial crops mainly required for the manufacturing of pasta products; macaroni, spaghetti and semolina. Improved durum wheat varieties suitable for irrigated lowland areas of Ethiopia including Afar and Oromia regions are limited. To overcome this constraint, the recently released 12 durum wheat varieties for rainfed conditions were evaluated across four different locations to confirm their environmental adaptation under irrigation during 2021. Grain yield and yield components, and environmental data were collected and analyzed using R-software. The combined analysis of variance indicated that the varieties differed significantly for all traits except for numbers of kernels per spike. There were highly significant differences among durum wheat varieties in their performances in yield and yield related traits across locations. D2018 (D2018), Toltu and Fetan varieties gave higher grain yield at Werer and Arage (middle Awash) while Denbi, Bullala and Werer1 at Jeju and Merti (upper Awash). Therefore, D2018 could be recommended for middle Awash while Denbi and Bullala for upper Awash areas for large scale cultivation.
Background: Type 2 diabetes (T2D) is a chronic metabolic disease characterised by hyperglycaemia due to insulin resistance and impaired insulin secretion. Genetic and environmental factors can influence predisposition to this disease. Genetic predisposition plays a significant role in the risk of developing the disease, and the TCF7L2 (T-Cell Factor-Like 2) gene is one of the main genes associated with type 2 diabetes. Objective: The aim of this study was to investigate the prevalence of the rs12255372 (G/T) polymorphism in TCF7L2, a gene associated with the risk of type 2 diabete (T2D) in the Ivorian population in the north of Côte d'Ivoire. Methodology: We included a total of 75 participants, 50 with type 2 diabete and 25 healthy subjects, for various anthropometric, clinical and genetic parameters. Participants were recruited from the Korhogo Regional Hospital. After obtaining consent, a blood sample was taken from each participant for glycaemia measurement and confetti realization for molecular biology. Genomic DNA extracted from the confetti was used to perform TCF7L2 gene genotyping using allele-specific PCR. Results: Analysis of the prevalence of the T allele of the SNP rs12255372 showed a statistically significant association between type 2 diabetic patients and non-diabetics (p≤0.05). The analysis revealed a genotypic prevalence of the rs12255372 variant of the TT allele significantly more expressed in non-diabetics (52%) compared with diabetics (26%) (p=0.03, z=2.23). Conclusion: This study revealed a high prevalence of the rs12255372 genetic variant of the TCF7L2 gene in non-diabetic populations in the north of Côte d'Ivoire, suggesting a significant predisposition to types 2 diabetes and the involvement of other factors, such as environmental conditions, lifestyle habits and genetic interactions in the development of type 2 diabetes in healthy subjects carrying the TT allele of the SNP rs12255372 of the TCF7L2 gene.
This review aimed to evaluate the reproductive performance of Jersey cross, 50% HF cross, and 75% HF cross dairy cattle in Ethiopia. Data from 287 crossbred cattle records were analyzed to assess traits including age at first service (AFS), age at first calving (AFC), calving interval (CI), days open (DO), and number of services per conception (NSPC). Statistical analysis was conducted using SAS 9.0 and SPSS 22.0. Overall means (± SD) were 30.68 ± 4.76 months for AFS, 40.99 ± 4.95 months for AFC, 456.93 ± 49.16 days for CI, 147.40 ± 43.74 days for DO, and 1.69 ± 0.28 for NSPC. Genetic group did not significantly (p > 0.05) influence reproductive traits. However, 75% HF crosses exhibited superior AFS and NSPC, while 50% HF crosses had shorter CI, and Jersey crosses showed better AFC and DO. Phenotypic correlations among reproductive traits were predominantly low and positive (e.g., 0.244 between CI and NSPC), except for a weak negative correlation (-0.072) between AFS and AFC. The findings suggest that 75% HF crossbred cow’s demonstrated favorable reproductive outcomes in select traits. To optimize reproductive performance, improvements in heat detection, timely insemination, health management, and genetic strategies for crossbreeding are recommended.
The present review article aims to provide and summarize synthesized information regarding some of economically important traits on reproductive and productive performance of crossbred chicken to develop both adaptive and sustainable breed to the intended beneficiaries. Growth traits, egg production traits, reproductive traits and other economically important traits of crossbred chicken were assessed in comparison to their counterparts purebred breed both native and exotic parents. In the majority of crossbreeding studies, the hybrids surpassed the original native parental breeds in various traits studied, including body weight, feed conversion ratio, age at first egg, egg production, egg weight, and egg mass. The majority of hybrids achieved sexual maturity at an earlier age, laid more eggs, and produced a greater egg mass when compared to local chickens. Eggs from the hybrids were also heavier than those from the local chickens in certain crossbreeding experiments. In overall, crossbred chickens that combine the blood of exotic and local breeds tend to perform relatively better than indigenous chickens, which are typically characterized in low production due genetics. The frequent production of F1 crossbred demands in subsequent importation of exotic parent due to produced offspring chicken are terminal genetically. Also, the degree of heterosis retained in the crossbred decreased as generation increased due recombinant ad segregations effects. To overcome such problem producing adaptive and sustainable chicken breed through synthetic breeding is crucial for developing countries like Ethiopia.
Background. Uterine fibroids are the most common gynaecological tumours and represent a significant medical and financial burden. Several genetic, hormonal and biological factors have been shown to contribute to the development and growth of these tumors. Objective. We aimed to evaluate the evolution of fibroma during pregnancy and understand the genetic link between fibroma and pregnancy in Senegalese women. Methods. We analyzed the functional impact of non-synonymous variants on the CYP17A1 protein in 20 pregnant patients with fibroids, using PCR-sequencing. First of all, mutations were detected using Mutation Surveyor, then the functional impact of non-synonymous variants was analysed using In Silico tools, the secondary and three-dimensional structure of the protein were also analysed. After, raw data were aligned using BioEdit software for doing phylogenetic analysis. Results. The results show that the CYP17A1 gene is involved in the development of uterine fibroids in pregnant women, and that the c.-34T>C polymorphism plays an important role; on the one hand, some of non-synonymous mutations (p.Lys26Thr and p.Ser30Asn) have caused genetic disorders on the secondary structure, and on the other, others (p.Lys26Thr, p.Ser30Asn and p.Ser39Asn) have destabilizing effects on the protein. Conclusion. The c.-34T>C polymorphism is involved in fibroid cell growth during pregnancy through the effect of hormone overexpression, while non-synonymous variants lead to dysfunction in protein synthesis. The c.76A>T (p.Lys26*) mutation results in a truncated CYP17A1 protein, and cause premature loss of function. The non-synonymous variants (p.Lys26Thr, p.Ser30Asn and p.Ser39Asn) induce a change in the enzyme's biological function.
