Search results for "Genotyping"

Genome-Wide Analyses Identifies Known and New Markers Responsible of Chicken Plumage Color

2020

Simple Summary In order to assess sources of variation related to Polverara breed plumage color (black vs. white), we carried out genome-wide analyses to identify the genomic regions involved in this trait. The present work has revealed new candidate genes involved in the phenotypic variability in local chicken populations. These results also contribute insights into the genetic basis for plumage color in poultry, and confirm the great complexity of the mechanisms that control this trait. Abstract Through the development of the high-throughput genotyping arrays, molecular markers and genes related to phenotypic traits have been identified in livestock species. In poultry, plumage color is a…

Genome-wide analysis reveals the patterns of genetic diversity and population structure of 8 Italian local chicken breeds

2021

The aim of this study was to conduct a genome-wide comparative analysis of 8 local Italian chicken breeds (Ermellinata di Rovigo, Millefiori di Lonigo [PML], Polverara Bianca, Polverara Nera, Padovana, Pepoi [PPP], Robusta Lionata, and Robusta Maculata), all under a conservation plan, to understand their genetic diversity and population structure. A total of 152 animals were analyzed using the Affymetrix Axiom 600 K Chicken Genotyping Array. The levels of genetic diversity were highest and lowest in PML and PPP, respectively. The results of genomic inbreeding based on runs of homozygosity (ROH; FROH) showed marked differences among breeds and ranged from 0.161 (PML) to 0.478 (PPP). Furtherm…

Genome-wide association scan of attention deficit hyperactivity disorder

2008

Contains fulltext : 70191.pdf (Publisher’s version ) (Closed access) Results of behavioral genetic and molecular genetic studies have converged to suggest that genes substantially contribute to the development of attention deficit/hyperactivity disorder (ADHD), a common disorder with an onset in childhood. Yet, despite numerous linkage and candidate gene studies, strongly consistent and replicable association has eluded detection. To search for ADHD susceptibility genes, we genotyped approximately 600,000 SNPs in 958 ADHD affected family trios. After cleaning the data, we analyzed 438,784 SNPs in 2,803 individuals comprising 909 complete trios using ADHD diagnosis as phenotype. We present t…

The evaluation of changes in maxillofacial bones using cone beam tomography in acromegaly

2022

BACKGROUND: The aim of the study was to evaluate the changes in craniofacial dimensions of newly diagnosed and untreated acromegaly patients, patients with non-functional pituitary adenoma and healthy individuals on Cone Beam Computed Tomography (CBCT). MATERIAL AND METHODS: 50 newly diagnosed acromegaly patients who did not receive any treatment for acromegaly were included in the study (Group A). Twenty patients with nonfunctional pituitary adenoma (Group B) and 30 healthy individuals were included (Group C). Linear, angular and volumetric measurements were performed. RESULTS: Mandibular length showed significant difference in acromegaly patients, and maxillar length statistically signifi…

A variant of the LRP4 gene affects the risk of chronic lymphocytic leukaemia transformation to Richter syndrome

2010

Richter syndrome (RS) represents the transformation of chronic lymphocytic leukaemia (CLL) to aggressive lymphoma. Risk factors of CLL transformation to RS are only partly known. We explored the role of the host genetic background as a risk factor for RS occurrence. Forty-five single nucleotide polimorphisms (SNPs) known to be relevant for CLL prognosis were genotyped in a consecutive cohort of 331 CLL, of which 21 had transformed to RS. After correcting for multiple testing and adjusting for previously reported RS risk factors, the LRP4 rs2306029 TT variant genotype was the sole SNP independently associated with a higher risk of RS transformation (Hazard Ratio: 4·17; P = 0·001; q = 0·047).…

Genomic structural diversity in local goats: Analysis of copy-number variations

2020

Copy-number variations (CNVs) are one of the widely dispersed forms of structural variations in mammalian genomes, and are present as deletions, insertions, or duplications. Only few studies have been conducted in goats on CNVs derived from SNP array data, and many local breeds still remain uncharacterized, e.g., the Sicilian goat dairy breeds. In this study, CNV detection was performed, starting from the genotypic data of 120 individuals, belonging to four local breeds (Argentata dell&rsquo

Dog-bite-related attacks: A new forensic approach

2020

Dog attacks today represent a health hazard considering that prevention strategies have not always been successful. The identification of the dog that attacked the victim is necessary, considering the civil or criminal consequences for the animal's owner. An accurate scene analysis must be performed collecting a series of important information.Forensic investigations in dog attacks involve different methods, such as the evaluating of the canine Short Tandem Repeat (STR) typing in saliva traces on wounds or bite mark analysis, however, these techniques cannot always be applied. The effort to find new methods to identify the dog that attacked the victim represents a very interesting field for…

MOLECULAR CHARACTERIZATION OF PATIENTS WITH AND WITHOUT CORONARY ARTERY DISEASE WITH "EXTREME LDL-C PHENOTYPES"

2020

High prevalence of oral potentially malignant disorders and risk factors in a semi-urban brazilian city: a population-based cross-sectional study

2021

Background Oral Potentially Malignant Disorders (OPMDs) are defined as lesions with a greater likelihood of progressing to cancer. Population-based studies that evaluate the prevalence of OPMDs are scarce in Brazil. The aim of the present study was to determine the prevalence of OPMDs and associated risk factors in a semi-urban Brazilian population. Material and Methods This is a cross-sectional study, whose universe included individuals aged 40 years or older residing in a medium-sized city of northeastern Brazil. Data collection was divided into two steps: interview and oral examination. The outcome variable was the presence of OPMDs. The predictor variables were sociodemographic characte…

The molecular characterization of a depurinated trial DNA sample can be a model to understand the reliability of the results in forensic genetics

2014

The role of DNA damage in PCR processivity/fidelity is a relevant topic in molecular investigation of aged/forensic samples. In order to reproduce one of the most common lesions occurring in postmortem tissues, a new protocol based on aqueous hydrolysis of the DNA was developed in vitro. Twenty-five forensic laboratories were then provided with 3.0 μg of a trial sample (TS) exhibiting, in mean, the loss of 1 base of 20, and a molecular weight below 300 bp. Each participating laboratory could freely choose any combination of methods, leading to the quantification and to the definition of the STR profile of the TS, through the documentation of each step of the analytical approaches selected. …