, a typical estuarine cichlid species in the West Coast of Africa, is an important fish species in view of its immense contribution to the need of many African nations in terms of nutrition, growth and development. Knowledge of how genetically diverse and the genetic structure of especially with regard to the variation in the genetic constitution of populations in this region will be crucial for improving the fish through rational-breeding, proper management, aquaculture production, and stock conservation. Keeping in view the significance of genetic diversity in fish species, report of studies on genetic diversity in West Africa was reviewed. Morphological and molecular techniques were used to assess genetic diversity of this species for breeding and conservation purposes. We hereby report the extent and pattern of variation in genetic constitution of populations found in some West African countries including Nigeria.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687227 | PMC |
http://dx.doi.org/10.1016/j.btre.2019.e00362 | DOI Listing |
The novel HLA-C*03:678 allele differs from HLA-C*03:04:01:02 by single non-synonymous nucleotide substitution.
View Article and Find Full Text PDFHLA
January 2025
Strand Life Sciences, Bangalore, Karnataka, India.
The novel HLA-DQB1*06:469 allele differs from HLA-DQB1*06:01:01:01 by one nucleotide substitution in codon 187 in exon 3.
View Article and Find Full Text PDFCancer
February 2025
Departmental Unit of Molecular and Genomic Diagnostics, Genomics Core Facility, G-STeP, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Background: To date, 11 DNA polymerase epsilon (POLE) pathogenic variants have been declared "hotspot" mutations. Patients with endometrial cancer (EC) characterized by POLE hotspot mutations (POLEmut) have exceptional survival outcomes. Whereas international guidelines encourage deescalation of adjuvant treatment in early-stage POLEmut EC, data regarding safety in POLEmut patients with unfavorable characteristics are still under investigation.
View Article and Find Full Text PDFMol Genet Genomic Med
February 2025
Department of Pediatric Neurology, Hospital Universitario Quirónsalud, Madrid, Spain.
Background: Biallelic pathogenic variants in the FUCA1 gene are associated with fucosidosis. This report describes a 4-year-old boy presenting with psychomotor regression, spasticity, and dystonic postures.
Methods And Results: Trio-based whole exome sequencing revealed two previously unreported loss-of-function variants in the FUCA1 gene.
Genes Chromosomes Cancer
January 2025
Laboratory of Cancer Genetics and Tumor Biology, Translational Medicine Research Unit, Medical Research Center Oulu and Biocenter Oulu, University of Oulu, Oulu, Finland.
Myelodysplastic neoplasia with complex karyotype (CK-MDS) poses significant clinical challenges and is associated with poor survival. Detection of structural variants (SVs) is crucial for diagnosis, prognostication, and treatment decision-making in MDS. However, the current standard-of-care (SOC) cytogenetic testing, relying on karyotyping, often yields ambiguous results in cases with CK.
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