Search results for " polymorphism"
showing 10 items of 1028 documents
The climatic and genetic heritage of Italian goat breeds with genomic SNP data
2021
Local adaptation of animals to the environment can abruptly become a burden when faced with rapid climatic changes such as those foreseen for the Italian peninsula over the next 70 years. Our study investigates the genetic structure of the Italian goat populations and links it with the environment and how genetics might evolve over the next 50 years. We used one of the largest national datasets including > 1000 goats from 33 populations across the Italian peninsula collected by the Italian Goat Consortium and genotyped with over 50 k markers. Our results showed that Italian goats can be discriminated in three groups reflective of the Italian geography and its geo-political situation prec…
Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk.
2014
Previous studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the role of CASP8 in breast cancer susceptibility, we carried out dense genotyping of this region in the Breast Cancer Association Consortium (BCAC). Single-nucleotide polymorphisms (SNPs) spanning a 1 Mb region around CASP8 were genotyped in 46 450 breast cancer cases and 42 600 controls of European origin from 41 studies participating in the BCAC as part of a custom genotyping array experiment (iCOGS). Missing genotypes and SNPs were imputed and, after quality exclusions, 501 typed and 1232 imputed SNPs were included in logistic regressionmodels adjusting for stud…
Genetic diversity of Dioscorea dumetorum (Kunth) Pax using Amplified Fragment Length Polymorphisms (AFLP) and cpDNA
2010
We have utilized Amplified Fragment Length Polymorphisms (AFLP) in conjunction with chloroplast DNA (cpDNA) sequence data to study the genetic diversity in 53 accessions of Dioscorea dumetorum from six countries in West and Central Africa. Our results provide a comparison of the two marker systems with regards to their applicability to differentiate intraspecific genotypes and the grouping of the accessions based on localities of collection. A total of 1052 AFLP fragments (of which 94.1% were polymorphic) produced from twelve primer combinations indicate a relatively high level of polymorphism among the accessions. Three major genetic groups that do not strictly follow a geographic distribu…
Assessment of genetic variation in SicilianHelichrysum(Asteraceae) and implication to germplasm conservation
2008
Some taxa of Sicilian Helichrysum related to sect. Stoeachadina have an uncertain systematic position; moreover, they are rare and endangered. In order to preserve these taxa in a genebank, a strategy to keep their genetic variation as high as possible is required. The high informative content of AFLP markers was used to assess genetic variations within and between populations and their relationships. The results show that all populations are genetically similar, even though there are two distinct groups: the first is the population referred to H. pendulum, and the second is represented by other populations belonging to several different specific and intraspecific taxa. The H. pendulum popu…
Relation Between Genetic Factors and Frailty in Older Adults.
2018
Frailty is a geriatric syndrome that identifies individuals at higher risk of disability, institutionalization, and death. We previously reported that frailty is related to oxidative stress and cognitive impairment-related biomarkers. The aim of this study was to determine whether frailty is associated with genetic variants.Longitudinal population-based cohort of 2488 community-dwelling people from Toledo, Spain, aged 65 years or older.We obtained blood samples from 78 individuals with frailty and 74 nonfrail individuals who were nonfrail (according to Fried criteria) from the Toledo Study of Healthy Ageing and extracted DNA using the Chemagic DNA blood kit.Sample genotyping was carried out…
Molecular community and population studies of arbuscular mycorrhizal fungi (Glomeromycota)
2014
The arbuscular mycorrhizal symbiosis, which appeared at the same time as land plants, 460 million years ago, is a mutualistic beneficial association between most land plants, including those cultivated, and arbuscular mycorrhizal fungi (AMF). AMF, from the Glomeromycota phylum, are widespread soil microorganisms needing a photosynthetic host to complete their life cycle (obligate symbionts). The great potential of plant mineral nutrition improvement and crop production increased during this symbiosis, make AMF an asset in the context of an increase in the demand of world food crop production. The control of that symbiosis by ecology engineering in order to improve ecosystem services, especi…
Genetic polymorphisms and gustatory perception of dietary lipids in the obese subjects
2017
Obesity has become one of most important public health issue in this century. A number of genetic and environmental factors contribute to development of this pathology. Daily dietary intake is also one of the crucial factors. Excessive dietary fat intake has been shown to be critical in the development of obesity. In the last two decades, several studies have shown that oral fat sensing plays an important role in the development of obesity. To prove a relationship between obesity, oral fat sensing and genetic polymorphisms, we recruited children, adolescents and adult subjects from three different populations. To date, CD36 gene encodes the most promising fat taste receptor. Furthermore, we…
Pharmacogenetic considerations for optimizing tacrolimus dosing in liver and kidney transplant patients
2013
The introduction of tacrolimus in clinical practice has improved patient survival after organ transplant. However, despite the long use of tacrolimus in clinical practice, the best way to use this agent is still a matter of intense debate. The start of the genomic era has generated new research areas, such as pharmacogenetics, which studies the variability of drug response in relation to the genetic factors involved in the processes responsible for the pharmacokinetics and/or the action mechanism of a drug in the body. This variability seems to be correlated with the presence of genetic polymorphisms. Genotyping is an attractive option especially for the initiation of the dosing of tacrolim…
Comparing RADseq and microsatellites for estimating genetic diversity and relatedness : Implications for brown trout conservation
2019
The conservation and management of endangered species requires information on their genetic diversity, relatedness and population structure. The main genetic markers applied for these questions are microsatellites and single nucleotide polymorphisms (SNPs), the latter of which remain the more resource demanding approach in most cases. Here, we compare the performance of two approaches, SNPs obtained by restriction-site-associated DNA sequencing (RADseq) and 16 DNA microsatellite loci, for estimating genetic diversity, relatedness and genetic differentiation of three, small, geographically close wild brown trout (Salmo trutta) populations and a regionally used hatchery strain. The genetic di…
De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of E…
2013
Item does not contain fulltext Anorectal malformations (ARMs) comprise a broad spectrum of conditions ranging from mild anal anomalies to complex cloacal malformations. In 40-50% of cases, ARM occurs within the context of defined genetic syndromes or complex multiple congenital anomalies, such as VATER/VACTERL (vertebral defects [V], ARMs [A], cardiac defects [C], tracheoesophageal fistula with or without esophageal atresia [TE], renal malformations [R], and limb defects [L]) association. Here, we report the identification of deletions at chromosome 13q using single nucleotide polymorphism-based array analysis in two patients with mild ARM as part of VATER/VACTERL and VATER/VACTERL-like ass…