012-300 Autismo e genetica parte 11 (volume terzo)


Uploaded by RotoloGiuseppe on 21.01.2011

Transcript:
We describe the processes involved in Fragile X syndrome

Several video tutorials of this course of scientific articles report on the relationship between autism and genetics, in particular the relationship between fragile X and autism
The video animations produced by genetic www.autismo.pro describe the details for the less experienced in genetics
Even parents who want to try to read scientific articles on genetics and autism will be able to obtain useful information. A more informed parent makes more informed choices
www.autismo.pro bother to make the scientific literature on autism for all. A person affected by fragile X syndrome, has a defective gene on chromosome X
People with X chromosome non-pathological, have a normal gene on chromosome X. The gene in question produces a protein needed for brain development.
People with fragile by the X have a defect in the production of brain protein
The gene that causes fragile X is called FMR1. People with autism who have a clear genetic involvement often report the presence Fragile X
Note that many authors prefer not to talk about autism and autism. This particular emphasizes the various factors involved in autism
In fragile X chromosome may be visible through the karyotype, a narrowing near the tip of chromosome X. This restriction affects the normal functioning of the X chromosome
The narrowing reflects a fragile X chromosome. The fragile X chromosome may in fact be involved in breaking that influence gene expression
Many people who have fragile X syndrome, present at the molecular level (DNA) increased the physiological CGG trinucleotide repeat in the FMR1 gene
In a minority of subjects the fragile X syndrome is caused by deletions or point mutations of the gene
In the genome, the information is stored in a nitrogen bases on DNA sequences
In the film we show the sequence of triplets that carry the minimum information to create a piece of protein
Let us first consider a single sequence cytosine, blue, guanine, guanine, red. This is a triplet of nitrogen bases or nucleotides. We show an example of a triplet, ie a basic message
In other words, this is the message a minimum. You are looking at different sets of triplets from 2 to 3 to 10. Here you see how the triplet CGG, cytosine, guanine, guanine repeats in the FMR1 gene
This is an example of a portion of the FMR1 gene. The FMR1 gene is involved in some cases of autism. Now you see another video with the triplet CGG, cytosine, guanine, guanine
The triplet is repeated several times within the FMR1 gene. In the video to the right the triplets are connected to a strand of DNA. As usual, we chose to represent, for clarity, only the DNA helix