Search results for "zygosity"
showing 10 items of 200 documents
Alpha1-antitrypsin heterozygosity plays a positive role in attainment of longevity.
2007
Genes involved in cardiovascular diseases (CVD) play an opposite role in human longevity. The alpha1-antitrypsin (AAT) is a serine-protease inhibitor required for the prevention of proteolytic tissue damage, by neutrophil elastase. The role of AAT in CVD has not been definitively assessed and its effect on longevity has not yet fully been studied. To clarify these points, we have studied the distribution of AAT allele variants in 3 cohorts: 127 young patients affected by acute myocardial infarction (AMI), 255 young controls and 143 centenarians from Sicily. The Z allele frequency was most frequent in centenarians (13.3%), intermediate in healthy young controls (3.1%) and less frequent in AM…
Microspore embryogenesis inCitrusand other fruit crops
2017
Conventional methods, involving several generations of selfing, are not applicable to produce homozygous lines in Citrus as well as in the other fruit crops, due to the high heterozygosity of the genomes, the long duration of the generation cycle, the large size, and, often, the self-incompatibility. For this reason, there is no different way to obtain homozygosity in this kind of plants than âgametic embryogenesisâ that allows the development of haploids (Hs, plants with gametophytic chromosome number) and doubled haploids (DHs, haploids that have undergone chromosome duplication) from heterozygous parents in a single step. Therefore, gametic embryogenesis is increasingly object of res…
Gametic embryogenesis through isolated microspore culture in mandarin (Citrus reticulata Blanco), Mandarino Tardivo Di Ciaculli: effect of meta-Topol…
2016
Haploid technology, allowing the single-step development of complete homozygous genotypes from heterozygous plants through gametic embryogenesis, has already an enormous impact on breeding programs of many important crops. Microspore embryogenesis can be carried out through in vitro culture of anther or isolated microspore. Experiments have been carried out via isolated microspore culture in Citrus reticulata (Blanco), Mandarino Tardivo di Ciaculli, investigating the influence of two culture media, of two plant growth regulator types and of two temperature treatments applied before the culture or just after the culture. After ten months of culture, for all the media tested, different struct…
STUDY ON GAMETIC EMBRYOGENESIS VIA IN VITRO ANTHER AND ISOLATED MICROSPORE CULTURE IN FRUIT CROPS
2014
Fruit breeding is mainly based on both conventional (hybridization, mutation and selection) or biotechnological methods (somatic hybridization, genetic transformation and haploid production). The genetic improvement through the conventional methods is limited by many factors such as fruit trees long juvenile period, high heterozygosity, large size and sexual incompatibility. Haploids and doubled haploids, obtained through gametic embryogenesis have a potential use in fruit crops genetic improvement. The change of the microspores fate from the normal gametopytic pathway towards the sporophytic induction is affected by numerous factors. Genotype, medium composition and stress were considered …
Genome-wide scan for Runs of Homozygosity in Valle del Belice sheep
2017
The current availability of very large numbers of single nucleotide polymorphisms (SNPs) throughout the genome makes these markers particularly suitable for the detection of genomic regions where a reduction in heterozygosity occurred and offers new opportunities to improve the accuracy of inbreeding (F) estimates. Runs of homozygosity (ROH) are contiguous lengths of homozygous segments of the genome where the two haplotypes inherited from the parents are identical. Here, we investigated the occurrence and the distribution of ROH in medium-density SNP genotypes (~ 50 000) in order to characterize autozygosity in 512 individuals of Valle del Belice sheep and identify the regions of the genom…
Prognostic significance of p16INK4a alterations and 9p21 loss of heterozigosity in locally advanced laryngeal squamous cell carcinoma
2002
The p16INK4a gene, localized within chromosome 9p21, has been identified as a cyclin-dependent kinase inhibitor and may negatively regulate the cell cycle acting as a tumor suppressor. Genetic alterations involving the 9p21 region are common in human cancers. A consecutive series of 64 untreated patients (median of follow up 53 months) undergoing surgical resection for locally advanced laryngeal squamous-cell carcinomas (LSCCs) has been studied prospectively. Our purpose was to investigate p16 alterations (9p21 allelic loss, hypermethylation and point mutations) and their possible association with clinico-pathological data and flow cytometric variables (DNA-ploidy and S-phase fraction (SPF)…
Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene
2006
Summary Objective Congenital primary hypothyroidism (CH) occurs in one of 4000 births and in 20% of the cases CH is due to a defect in thyroid hormonogenesis. Candidate genes were examined to determine the precise aetiology of suspected dyshormonogenesis in CH. Design The genes that code for thyroid peroxidase (TPO), pendrin (PDS), sodium iodide symporter (NIS) and thyroid oxidase 2 (THOX2) were sequenced directly from genomic DNA. Patients Two girls found to have CH in the neonatal screening programme and suspected of having thyroid dyshormonogenesis were investigated to identify their molecular defect. Results Patient A had a novel heterozygous 1 bp insertion in the THOX2 gene (ins602…
Genome-wide analyses reveal population structure and identify candidate genes associated with tail fatness in local sheep from a semi-arid area.
2021
Abstract Under a climate change perspective, the genetic make-up of local livestock breeds showing adaptive traits should be explored and preserved as a priority. We used genotype data from the ovine 50 k Illumina BeadChip for assessing breed autozygosity based on runs of homozygosity (ROH) and fine-scale genetic structure and for detecting genomic regions under selection in 63 Tunisian sheep samples. The average genomic inbreeding coefficients based on ROH were estimated at 0.017, 0.021, and 0.024 for Barbarine (BAR, n = 26), Noire de Thibar (NDT, n = 23), and Queue fine de l'Ouest (QFO, n = 14) breeds, respectively. The genomic relationships among individuals based on identity by state (I…
A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population.
2002
Myoadenylate deaminase deficiency is the most common metabolic disorder of skeletal muscle in the Caucasian population, affecting approximately 2% of all individuals. Although most deficient subjects are asymptomatic, some suffer from exercise-induced myalgia suggesting a causal relationship between a lack of enzyme activity and muscle function. In addition, carriers of this derangement in purine nucleotide catabolism may have an adaptive advantage related to clinical outcome in heart disease. The molecular basis of myoadenylate deaminase deficiency in Caucasians has been attributed to a single mutant allele characterized by double C to T transitions at nucleotides +34 and +143 in mRNA enco…
Thymidylate synthase polymorphism and microsatellite instability: association in colorectal cancer.
2005
5-Fluorouracil (5FU) is the main drug used for the treatment of colorectal cancer (CRC) and Thymidilate Synthase (TS) is its target enzyme. TS gene has regulatory tandemly repeated sequences in its 5'' and 3''untraslated region (5''-3'' UTR). CRC often shows a kind of genomic instability called Microsatellite Instability (MSI) that is associated with TS levels and survival. Our data show that the genotype 2R/2R (homozygosity for 2 tandem repeat sequences in the 5''UTR) is more frequently associated with MSI+ and lower TS levels. More over we did not find any significant association between the 2R/3R (heterozygosity for 2 and 3 tandem repeat sequences in the 5''UTR) and 3R/3R (homozygosity f…