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Analisi molecolare dell'eredità patologica nel bovino - Ittiosi nella razza Chianina e Spinal Muscular Atrophy nella razza Bruna
No full textStudy on genetics of Ichtyosis
Analysis were performed on a total of 12 Chianina cattle from the same farm and originating from a single ancestor, including three paternal half-sibs affected by ichthyosis and their parents. Thirteen unrelated animals belonging to the Friesian, Piemontese, Grey Alpina, Rendena and Valdostana Castana breeds, were also analysed as control outgroup.
TGM1 gene analisis. The complete sequence of the cDNA of the gene bovine TGM1 cattle was obtained from epidermal tissue of a Chianina bull, obliged carrier of ichtyosis. In exon 2 haplotypes have been identified. However no haplotypes were associated with the disease.
Homozygosity mapping. The search for regions in homozygosis (Homozygosity mapping) in the genome of affected subjects was made genotyping with a wide set of microsatellite markers and constructing tables of genotypes, one for each chromosome, where it is put in evidence the loss of homozygosity signaling in gray genotypes that determine it. Three areas showed significant homozygosity: 1) BTA3, markers bmc5227 bmc4214. 2) BTA13, marker bm720.3) BTA29, bms764 marker. 4) BTA 2, mb106 marker.
Study on genetics of SMA
In collaboration with LGS Cremona was rebuilt a complex Brown pedigree segregating SMA and consisting of 106 subjects. In our reconstruction it was possible to bring all the cases to a single bull ancestor.Genotyping was carried on using a panel of markers which describe the haplotype associated with the gene BovSMA in telomere of BTA24 (INRA090, BMS2034, BMS1926, BMS3024, URB031, DIK4807, DIK4984, DIK5062, DIK4971, DIK5410, MSWGS67234, MSWGS100832, MSWGS31678 ). The haplotype analysisallowed to identify a set of markers to be used for the routine genetic diagnosis and the marker assisted selection of SMA., The analysis of haplotypes of chromosome segment BTA24 on one recombinant calf confirmed the mapping of the SMA locus telomeric to MSWGS31678.
The panel DIK4807-DIK4984, DIK5062, DIK4971, DIK5410, MSWGS67234, MSWGS100832, MSWGS31678-DIK4971 from January 2005 has been used by LGS-Cremona for 150 diagnostic tests on Italian Brown cattle and on foreign samples from Canada, Australia , Switzerland and France
Tursiops truncatus genetic analysis by DNA markers
No full textA recent law rules the captive breeding of Tursiops truncatus (T.t.) and prevents the introduction of new wild subjects in Italian delphinariums (D.M. n.469,6/12/2001). Microsatellite markers and D-loop mitochondrial polymorphism are widely used for identity/parentage control and analysis of the origin and genetic variability in several animal species. In the present work we characterized genetically the great part of the subjects of Tursiops truncatus ssp kept in captivity in Italy to get information to improve breeding programmes. Genomic and mitochondrial DNA from peripheral blood, blowhole mucosal swabs or necropsy tissues was extracted from 15 animals. Fourteen microsatellite loci informative in T.t. and 558bp of mitochondrial control region (Genbank#AF155161) were amplified by PCR and analyzed by fluorescent automatised methods. Mitochondrial sequences were aligned by Clustal W., genetic distance analysis calculated and a tree created by Phylip package using NEIGHBOR program and UPGMA option. Microsatellite markers allowed to genotype all the subjects and confirmed the parentage relationships. Mitochondrial control region analysis revealed 9 different haplotypes clustering in four different groups (Mediterranean Sea, Tenerife, Caribbean Sea and Mexican Gulf), according to the declared maternal origin of the capture areas. DNA polymorphism analysis clarified some genetic differences between the individuals of Tursiops truncates and suggests indication to orient mating plans and avoid the access of impreeding
METODO PER LA DETERMINAZIONE DELL’ EPIDERMOLISI BOLLOSA GIUNZIONALE NEL CANE
No full textSi descrive un metodo per l’individuazione immediata dell’alterazione genetica responsabile dell’epidermolisi bollosa nel cane (JEB), basato sull’identificazione della mutazione causativa all’interno del gene della laminina, e i prodotti utili per l’attuazione del metodo stesso
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Variations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
Appropriate Similarity Measures for Author Cocitation Analysis
Full text linkWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
Ichthyosys disorder in Chianina cattle: candidate gene approach and preliminary genome-wide scan data
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