Some of these mutations include a 1-base pair duplication in exon 4, a 2-base pair insertion in exon 2, a 1-base pair deletion in exon 4, and a 329-base pair deletion in exon 4 of the gene. The above mutations cause a frameshift in the gene. A frameshift mutation refers to a condition in which the reading frame of the gene is disrupted by the insertion or deletion of base pairs from the gene (if the number of inserted or deleted base pairs is not divisible by three). This frameshift mutation ultimately results in a premature termination codon (the formation of a termination codon at a position more "forward" than normal). Other mutations include a base pair transition in the start codon, which is the starting site of translation of the gene. A transition mutation occurring at this codon disrupts the codon sequence and abolishes the site. This prevents the cell from carrying out translation of the gene. Diagnosis
The diagnosis of Filippi Syndrome is mostly done postnatally. Initial diagnosis of the disease relies on clinical observation of symptoms, including different degrees of syndactyly and craniofacial abnormalities, exhibited by affected individuals. Diagnosis can also be done through radiography, which checks for malformation of digits.Confirmation of diagnosis requires the use of genetic testing.
Alimentary toxic aleukia is a mycotoxin-induced condition characterized by nausea, vomiting, diarrhea, leukopenia (aleukia), hemorrhaging, skin inflammation, and sometimes death. Alimentary toxic aleukia almost always refers to the human condition associated with presence of T-2 toxin. History
Alimentary toxic aleukia was first characterized in the early 20th century after affecting a large population in the Orenburg Oblast of the former USSR during World War II. The sick people had eaten overwintered grain colonized with Fusarium sporotrichioides and Fusarium poae. == References ==