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Thursday, February 4, 2010

Williams Syndrome More Condition_symptoms What Is The Name Of The Protein Coded For By Gene In Williams Syndrome?

What is the name of the protein coded for by gene in williams syndrome? - williams syndrome more condition_symptoms

It is a protein (uncoded) with him or if you do not tell me.

5 comments:

  1. Williams syndrome is caused by a very small chromosomal deletion on the long arm of chromosome 7th The deleted region includes the gene for elastin, a protein that elasticity of blood vessels and the strength to endure, there used to last a lifetime. The protein elastin is made only during embryonic development and childhood, in the formation of blood vessels. Because they lack the protein elastin, are people with Williams syndrome diseases of the circulatory system, also known as vascular diseases.

    Chromosomal deletion that causes Williams syndrome is so small that it can be seen in a karyotype. However, removal is observed with a special technique called fluorescence in situ hybridization or FISH. Be described This technique allows the DNA with a fluorescent substance () so-called probe, which lights up when the ultraviolet (UV) exposure. The elimination of Williams syndrome can be detected by labeling of the elastin gene with a fluorescent probe. The gene is illuminated with UV light, if it exists, shows no sign of a cancellation.

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  2. He was referring to elastin?

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  3. Williams syndrome is caused by a very small chromosomal deletion on the long arm of chromosome 7th The deleted region includes the elastin gene.

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  4. I suspect that the elastin is Protien

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  5. Williams syndrome is caused by the deletion of genetic material from the q11.2 region of chromosome 7th The deleted region includes more than 20 genes, and researchers believe that the loss of several of these genes probably contributes to the special characteristics of this disease. Clip2, ELN GTF2I, GTF2IRD1 and LIMK1 are among the genes that are normally deleted in individuals with Williams syndrome. The researchers found that the loss of the ELN gene are encoded the protein elastin, associated with connective tissue abnormalities and cardiovascular disease (especially supravalvular aortic stenosis (SVAS) and supravalvular pulmonary stenosis (SVPS)) is in many people with this syndrome found. Studies suggest that deletion of LIMK1, GTF2I, GTF2IRD1, and perhaps other genes that may help explain the problems with the optical properties of the spatial tasks. In addition, to demonstrate that the loss of several of these genes, including clip2 can contribute to the specific characteristics of behavior, mental retardation and other cognitive problems in Williams syndrome.

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