Search results for "zygosity"
showing 10 items of 200 documents
Isolation and characterization of twenty microsatellite loci for the ballan wrasse, Labrus bergylta
2014
Published version of an article in the journal: Conservation Genetics Resources. Also available from the publisher at: http://dx.doi.org/10.1007/s12686-013-0114-3 Open Access We developed 20 nuclear microsatellite DNA markers from tri- and tetra-nucleotide enriched libraries in the ballan wrasse. In our dataset (N = 241), the detected number of alleles per locus ranged from 2 to 12, and the observed and expected heterozygosity varied from 0.251 to 0.778 and from 0.286 to 0.804, respectively. Cross amplification with the goldsinny wrasse resulted in two usable loci whereas the corkwing wrasse amplified in one locus. The ballan wrasse is an important resource for aquaculture as it delouses fa…
Diversité génétique individuelle, différenciation morphologique et comportementale entres les sexes, patterns d'appariement et paramètres démographiq…
2013
Research in avian behavioral ecology is affected by a known bias in favour of temperate species despite the greatest diversity of tropical species and the radically remote natural conditions which make knowledge of temperate species hardly relevant to tropical species.We propose to reduce the lack of information about tropical birds through the study of a socially monogamous species, reproducing and defending an all-purpose territory all year round, the Zenaida dove, Zenaida aurita. We used monitoring data from a population of ringed birds in Barbados for six years. First, we focused on plumage coloration both to ascertain their sexually mono- or dichromatic nature and whether plumage colou…
Runs of homozygosity in the Italian goat breeds: impact of management practices in low-input systems
2021
Abstract Background Climate and farming systems, several of which are considered as low-input agricultural systems, vary between goat populations from Northern and Southern Italy and have led to different management practices. These processes have impacted genome shaping in terms of inbreeding and regions under selection and resulted in differences between the northern and southern populations. Both inbreeding and signatures of selection can be pinpointed by the analysis of runs of homozygosity (ROH), which provides useful information to assist the management of this species in different rural areas. Results We analyzed the ROH distribution and inbreeding (FROH) in 902 goats from the Italia…
Ploidy manipulation for genetic improvement in some Mediterranean fruit crops
2017
Plant breeding is focused on selection of new genotypes with improved traits. Conventional methods based on hybridization and those based on biotechnology (somatic hybridization, genetic transformation, ploidy manipulation, etc.) are used to create novel genetic variations. Biotechnology provides powerful tools for plant breeding, for instance, haploid technology allows achievement of homozygous lines from heterozygous parents in one step, which reduces significantly the time required by conventional methods. Concerning woody species, characterized by self-incompatibility, long juvenile period and high degree of heterozygosity, this technique is the only way to get homozygous lines. Haploid…
Implementation of a gene panel for the genetic diagnosis of primary ciliary dyskinesia
2020
Background: Primary ciliary dyskinesia (PCD) is a disease characterized by an alteration in the ciliary structure that causes an abnormal clearance of respiratory secretions. Its diagnosis is complex and is based on a combination of different techniques. The objective of this study was to design a gene panel including all known caustive genes, and to verify the utility for diagnostic in a cohort of Spanish patients. Methods: Multicenter cross-sectional study of patients with high suspicion of PCD, applying the criteria of the European Respiratory Society. Design a gene panel for mass sequencing with SeqCap EZ technology, including 44 PCD-related genes. Results: 79 patients were included, 53…
Implementation of a gene panel for genetic diagnosis of primary ciliary dyskinesia
2021
Abstract Introduction Primary ciliary dyskinesia (PCD) is characterized by an alteration in the ciliary structure causing difficulty in the clearance of respiratory secretions. Diagnosis is complex and based on a combination of techniques. The objective of this study was to design a gene panel including all known causative genes, and to corroborate their diagnostic utility in a cohort of Spanish patients. Methods This was a multicenter cross-sectional study of patients with a high suspicion of PCD according to European Respiratory Society criteria. We designed a gene panel for massive sequencing using SeqCap EZ capture technology that included 44 genes associated with PCD. Results We includ…
Genetische Hämochromatose und das HFE-Gen: von der Molekulargenetik zur klinischen Diagnostik
2000
More than 90% of patients with genetic hemochromatosis carry a characteristic mutation in the HFE-gene (C282Y). HFE modulates the iron uptake by the transferrin receptor. Duodenal crypt cells of HFE-knockout mice show low intracellular iron concentrations which lead to an upregulation of the divalent metal transporter and enhanced iron uptake by duodenal enterocytes. Heterozygosity for the C282Y mutation appears to alter the course of other liver diseases like porphyria cutanea tarda and nonalcoholic steatohepatitis.
Genetic and environmental influences on non-specific neck pain in early adolescence: A classical twin study
2012
Background Prevalence of neck pain has increased among adolescents. The origins of adult chronic neck pain may lie in late childhood, but for early prevention, more information is needed about its aetiology. We investigated the relative roles of genetic and environmental factors in early adolescent neck pain with a classic twin study. Methods Frequency of neck pain was assessed with a validated pain questionnaire in a population-based sample of nearly 1800 pairs of 11–12-year-old Finnish twins. Twin pair similarity for neck pain was quantified by polychoric correlations, and variance components were estimated with biometric structural equation modelling. Results Prevalence of neck pain repo…
A Combined Multi-Cohort Approach Reveals Novel and Known Genome-Wide Selection Signatures for Wool Traits in Merino and Merino-Derived Sheep Breeds.
2019
Merino sheep represents a valuable genetic resource worldwide. In this study, we investigated selection signatures in Merino (and Merino-derived) sheep breeds using genome-wide SNP data and two different approaches: a classical F-ST-outlier method and an approach based on the analysis of local ancestry in admixed populations. In order to capture the most reliable signals, we adopted a combined, multi-cohort approach. In particular, scenarios involving four Merino breeds (Spanish Merino, Australian Merino, Chinese Merino, and Sopravissana) were tested via the local ancestry approach, while nine pair-wise breed comparisons contrasting the above breeds, as well as the Gentile di Puglia breed, …
Genomic inbreeding estimation in small populations: evaluation of runs of homozygosity in local cattle breeds
2015
The availability of high throughput genotyping has facilitated the quantification of inbreeding by genomic markers in farm animals. Run of homozygosity (ROH) are contiguous lengths of homozygous genotypes and represent an estimate of the degree of autozygosity at genome-wide level. The current study aims to quantify the genomic inbreeding derived from ROH (FROH) in three Italian local cattle breeds. Individuals of Cinisara (71), Modicana (72), Reggiana (168) were genotyped with the 50K v2 Illumina BeadChip. Genotypes from 96 animals of the Italian Holstein cattle breed were included in the analysis. The following criteria were used to define a ROH: two missing SNPs; one heterozygous SNP; mi…