Analisi molecolare dell'eredità patologica nel bovino - Ittiosi nella razza Chianina e Spinal Muscular Atrophy nella razza Bruna

Study 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.