Research Article
Factors Responsible for the Diagnostic Odyssey and Counseling for Children with Intellectual Disability
Issue:
Volume 14, Issue 2, June 2026
Pages:
45-49
Received:
6 March 2026
Accepted:
19 March 2026
Published:
29 April 2026
Abstract: 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.
Abstract: 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...
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Research Article
Mutation Rate Analysis of 26 Rapidly Mutating Y-STRs in a Tanzanian Male Population
Issue:
Volume 14, Issue 2, June 2026
Pages:
50-59
Received:
14 April 2026
Accepted:
25 April 2026
Published:
11 May 2026
DOI:
10.11648/j.ijgg.20261402.12
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Abstract: 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.
Abstract: 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-...
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Research Article
Frequency and Characterization of TP53 Tumor Suppressor Gene Mutations in the Development and Progression of Prostate Tumors in Senegal
Issue:
Volume 14, Issue 2, June 2026
Pages:
60-75
Received:
15 April 2026
Accepted:
28 April 2026
Published:
12 May 2026
DOI:
10.11648/j.ijgg.20261402.13
Downloads:
Views:
Abstract: 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.
Abstract: 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,...
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,
Beulah Thullimelli
