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Ocular disease until then unknown was discovered in children of relatives related to blood. This is why scientists at the University of Geneva think that it is a hereditary recessive disorder. In hereditary recessive diseases, the symptoms only appear when there is a mutation on each of the two chromosomal copies. The affected child inherited the mutation of his mother and father.
Geneticists, in collaboration with colleagues from Liaquat University in Pakistan, investigated 200 Pakistani families with at least two children suffering from eye disease, but the parents were in good health. Following sequencing of the genome, researchers were able to isolate the Mark3 gene, as reported in the journal "Human Molecular Genetics."
In order to confirm that Mark3 was actually responsible for underdeveloped eyes and therefore blindness, they adopted an essay The fruits fly in front. In collaboration with Baylor College of Medicine in Houston, USA, they modified the fly gene. Result: the eyes of the flies do not develop properly, the animals are blind.
Now that the mechanisms of the disease are better understood, one can seek therapy, writes the University of Geneva in a broadcast. With a quick and inexpensive test, loved ones could now at least determine if they were carrying the mutation.
science.ORF.at/APA/sda
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