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Estimating the Genetic Risk of First-Degree Relatives for Chronic Diseases Using the Short Tandem Repeat Score as Model of Polygenic Inheritance.
Biochem Genet
December 2024
College of Medical Laboratory, Dalian Medical University, Dalian, 116044, People's Republic of China.
This study aims to establish a genetic risk assessment model based on a score of short tandem repeats (STRs) of polygenic inheritance. A total of 396 children and their biological parents were collected for STR genotyping. The numbers of tandem repeats of two alleles in one STR locus were assumed to be a quantitative genetic strength for disease incidence.
View Article and Find Full Text PDFXbaI polymorphism in the APOB gene and its association with increased cholesterol in children and adolescents: Ouro Preto study.
Sci Rep
December 2024
Postgraduate Program in Health and Nutrition, School of Nutrition, Federal University of Ouro Preto, Ouro Preto, 35400-000, Brazil.
Atherosclerotic vascular changes can begin during childhood, providing risk for cardiovascular disease (CVD) in adulthood. Identifiable risk factors such as dyslipidemia accelerate this process for some children. The apolipoprotein B (APOB) gene could help explain the inter-individual variability in lipid levels among young individuals and identify groups that require greater attention to prevent CVD.
View Article and Find Full Text PDFEthnogenetic analysis reveals the Bronze Age genetic affiliation of Yashkuns with West Eurasians.
Sci Rep
December 2024
Department of Clinical Pharmacy, College of Pharmacy, King Saud University, Riyadh, 11451, Saudi Arabia.
Focusing on the Yashkun population of Gilgit-Baltistan, an administrative territory in northern Pakistan, our study investigated mtDNA haplotypes as indicators of ancient gene flow and genetic diversity. Genomic DNA was extracted and evaluated for quality using agarose gel electrophoresis. The complete control region of mtDNA (nt 16024-576) was amplified via PCR, and sequencing was performed using the Big Dye Terminator Kit on an Applied Biosystems Genetic Analyzer.
View Article and Find Full Text PDFDevelopmental validation of a novel all-in one assay of X chromosomal multi-insertion/deletion loci for forensic genetics.
Sci Rep
December 2024
Department of Forensic Medicine, Guizhou Medical University, Guiyang, 550025, China.
Multi-insertion/deletion polymorphisms (Multi-InDels), as the novel genetic markers, show great potential in forensic research. Whereas, forensic researchers mainly focus on the multi-InDels on the autosomes, which can provide relatively limited information in some complex paternity cases. In this study, a novel X chromosomal multi-InDel multiplex amplification system was designed, containing 22 multi-InDels and one STR locus on the X chromosome.
View Article and Find Full Text PDFWhole genome sequencing reveals candidate causal genetic variants for spastic syndrome in Holstein cattle.
Sci Rep
December 2024
Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, 3012, Switzerland.
Bovine spastic syndrome (SS) is a progressive, adult-onset neuromuscular disorder (NMD). SS is inherited but the mode of inheritance is unclear. The aim of this study was to characterize the phenotype and to identify a possible genetic cause of SS by whole-genome sequencing (WGS) and focusing on protein-changing variants.
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