Articles Related to gene deletion
Two Novel Cases of Marfan Syndrome with FBN1 whole Gene Deletion: Laboratory Assay and Cases Review
Background: Marfan syndrome is a hereditary disorder of connective tissue mainly characterized by abnormalities in the cardiovascular, skeletal and ocular systems. It is most frequently due to heterozygous point mutations in the FBN1 gene located on chromosome 15q21.1 and coding for fibrillin-1 protein. Over 3000 FBN1 mutations have been reported in the FBN1 Universal
Mutation Database, among these FBN1 large rearrangements account for <2%. Several studies have shown that 15q deletions encompassing the whole FBN1 gene are associated with Marfan syndrome and FBN1 haploinsufficiency is involved in the pathogenesis of the disease. Since now 19 cases of FBN1 entire deletion have been already described.
Salmonella Serovars and Their Host Specificity
Salmonella is a causative agent for a wide variety of pathological diseases in humans, cattle, poultry and other farm animals and hence Salmonella infections are a major cause of concern to humans, veterinary animals and to food industry.