Search results for "Allele"
showing 10 items of 1006 documents
Identification of self(in)compatibility genotypes and microsatellite marker based fingerprinting of traditional italian sweet cherry accessions
2012
Italy is one of the main European sweet cherry producers and it has a rich germplasm, including many minor local varieties that have not been well studied or used in breeding programmes. Sweet cherry is self-incompatible, with few exceptions; its incompatibility is controlled by a multi-allelic S locus, which is gametophytically expressed. The knowledge of S-alleles and cross-incompatibility groups of sweet cherry genotypes and cultivars is important for growers and breeders. In this work we analysed 48 traditional sweet cherry varieties and cultivars, mainly from Calabria and Emilia Romagna regions, together with eight Sicilian cultivars and the standard set of reference genotypes proposed…
Biochemical genetic differentiation between Pomatoschistus marmoratus and P. tortonesei
1999
Several diagnostic genetic markers were identified in Pomatoschistus marmoratus and P. tortonesei using polyacrylamide gel electrophoresis (PAGE) of allozymes. Twenty-one loci were resolved, including the electrophoretic pattern of muscle proteins. The MDH*, PGM1,2*, EST-1,2*, FUM* and PGI-2* loci exhibited different alleles which were fixed for the two species being analysed. Genetic distance, as calculated by Nei's index, showed a value of 0.413. Environmental hypersalinity, could have influenced the geographical distribution of P. tortonesei.
CR1 allelic distribution in healthy italians and SLE patients
2010
Complement receptor type 1 (CR1; CD35), the receptor for C3b/C4b, has a molecular weight polymorphism involving four co-dominantly expressed alleles CR1*1, CR1*2, CR1*3 and CR1*4. The most common allotype in the Caucasian population is CR1*1. Previous studies on the frequency of the CR1 allele in Systemic Lupus Erythematosus (SLE) patients reported conflicting results. Recently an increased frequency of the CR1*2 allele was reported in Caucasian SLE patients. The aim of our study is to assess the frequency of CR1 structural alleles in a sample of the Italian population and in a cohort of Italian SLE patients equally distributed nationwide. We found that the most common phenotype was CR1*1.1…
Effect of the serotonin transporter gene and of environment on the continuity of anxiety and depression traits throughout adolescence
2014
Aims.Many studies of various stress reactive phenotypes suggest that 5-HTTLPR short allele carriers (S-carriers) are characterised by the stable trait of negative affectivity that is converted to psychopathology only under conditions of stress. In this study, we examined the moderating role of the 5-HTTLPR on the relationship between two objective chronic risk factors, i.e. socioeconomic status (SES) and family structure, and internalising symptoms across adolescence.Methods.A multigroup path analysis was employed in a general adolescent population sample of a 5-year follow-up study.Results.Internalising problems were significantly more stable in theS-carriers. The focus on the main dimensi…
Effect of family structure and TPH2 G-703T on the stability of dysregulation profile throughout adolescence
2015
Abstract Background Two different polymorphisms (TPH2 G-703T and 5-HTTLPR) involved in the serotonergic pathway have been reported to play a role, both alone and in interaction with the environment, in early and adult emotion regulation. As most of these studies are cross-sectional, we know little about the impact of these polymorphisms over time, particularly during adolescence. Methods Because we were interested in the effects of these polymorphisms and environment (i.e., family structure) at different time-points on the emotional dysregulation profile, we performed a path analysis model in a general adolescent population sample of a five-year follow-up study. Results We found a high stab…
Systematic review by meta-analyses on the possible role of TNF-alpha polymorphisms in association with Alzheimer's disease.
2009
It has been hypothesized that polymorphisms of Tumor Necrosis Factor (TNF)-alpha gene affect the risk of developing Alzheimer's disease (AD). However, results of different studies are often inconsistent. Our aim was to investigate by meta-analysis the association of the common polymorphisms comprehensively defining the genetic variability of the TNF-alpha gene with AD risk. Hence, the results being stated are of a meta-analysis across studies, and that this meta-analysis does not invalidate the results of the individual studies previously performed. Seventeen studies that investigated the association between 5 TNF-alpha polymorphisms (-850, -308, -863, -238, and -1031) and AD were retrieved…
Impact of Human Leukocyte Antigen Polymorphisms in Human Immunodeficiency Virus Progression in a Paediatric Cohort Infected with a Mono-phyletic Huma…
2014
Objective: HLA polymorphisms within the peptide binding pocket have been associated with rapid and slowprogression to AIDS, suggesting that the capability to present efficiently HIV-1 epitopes is crucial for the infection control. To minimize the effects of genetic background due to population coming from different geographic area and viral strain variability in the cohort, an analysis of all the polymorphisms associated with the HLA-A, -B and -DR alleles has been performed in a cohort of children with a monophyletic HIV-1 infection (CRF02_AG) during an outbreak in Libya. Methods: High-resolution HLA-typing has been performed in 58 children infected with a monophyletic strain of HIV-1: 26 L…
New Frontiers in the Treatment of Homozygous Familial Hypercholesterolemia.
2021
: Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder. The most common cause is a mutation in both alleles of the gene encoding for the low-density lipoprotein (LDL) receptor, although other causative mutations have been identified. Complications of atherosclerotic cardiovascular disease are common in these patients; therefore, reducing the elevated LDL-cholesterol burden is critical in their management. Conventionally, this is achieved by patients initiating lipid-lowering therapy, but this can present challenges in clinical practice. Fortunately, novel therapeutic strategies have enabled promising innovations in HoFH treatment. This review highlights recent and ongo…
The Rare IL22RA2 Signal Peptide Coding Variant rs28385692 Decreases Secretion of IL-22BP Isoform-1, -2 and -3 and Is Associated with Risk for Multipl…
2020
The IL22RA2 locus is associated with risk for multiple sclerosis (MS) but causative variants are yet to be determined. In a single nucleotide polymorphism (SNP) screen of this locus in a Basque population, rs28385692, a rare coding variant substituting Leu for Pro at position 16 emerged significantly (p = 0.02). This variant is located in the signal peptide (SP) shared by the three secreted protein isoforms produced by IL22RA2 (IL-22 binding protein-1(IL-22BPi1), IL-22BPi2 and IL-22BPi3). Genotyping was extended to a Europe-wide case-control dataset and yielded high significance in the full dataset (p = 3.17 ×
Missense and nonsense mutations in melanocortin 1 receptor (MC1R) gene of different goat breeds: association with red and black coat colour phenotype…
2009
Abstract Background Agouti and Extension loci control the relative amount of eumelanin and pheomelanin production in melanocytes that, in turn, affects pigmentation of skin and hair. The Extension locus encodes the melanocortin 1 receptor (MC1R) whose permanent activation, caused by functional mutations, results in black coat colour, whereas other inactivating mutations cause red coat colour in different mammals. Results The whole coding region of the MC1R gene was sequenced in goats of six different breeds showing different coat colours (Girgentana, white cream with usually small red spots in the face; Maltese, white with black cheeks and ears; Derivata di Siria, solid red; Murciano-Granad…