Diaz, Maria Luisa (2011) Studio della variazione genetica al Locus SLC11A1 in Capra hircus. Doctoral Thesis.
Natural resistance to infectious diseases is linked to the efficiency of the immune response and is under genetic control. The Solute Carrier Family 11 Member A1 (SLC11A1) gene encodes an integral membrane protein regulating the activity of macrophages. The SLC11A1 protein has 12 transmembrane domains (TM1-TM12), several phosphorylation sites and three functional domains. SLC11A1 gene is associated with resistance to infectious desease. In cattle, a polymorphic GT repeat, located in 3'UTR region of SLC11A1, has been associated with natural resistance to brucellosis, the GT13 allele has been associated with resistance to brucellosis, while GT14 and GT15 have been associated with susceptibility. In this study, we investigated the exon 15 of the gene and the genetic variability of the 3'UTR microsatellite in six dairy goat breeds. A total of 427 registered pedigree goats from 41 farms on the island of Sardinia, Italy, were selected. A blood sample was taken from each goat for DNA genotyping. SSCP was used to screen for polymorphisms in exons 15 of the caprine SLC11A1 gene. Variability was due to the presence of two polymorphic microsatellites. Genotyping of the upstream (GTn) repeat at 3'UTR revealed eight alleles (GT11, G12, G14-GT19) in goats, whereas GT13 was absent. Most goats carried the GT16 allele and no allele was found to be exclusive to only one breed. This microsatellite appears to be an informative DNA marker for genetic linkage analysis in goats.
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