Description of the genetic disease William's Syndrome.

The cause of Williams Syndrome is a hemizygous stinger on chromosome 7. One of the constituents that is deleted is the LIMK1 gene which codes for the LIMK1 protein. The LIMK1 protein is tangled in the regulation of actin in the cytoskeleton. The actin structurally helps booths stamp and nourish their proper shape. It also pulls sister chromatids apart during mitosis and is undeniable for cell locomotion. (www.wehi.edu.au/research/devneur/neuron_miswiring.html). The clinical molecular(a) diagnosis for Williams Syndrome is confirmed by FISH using a WS- proper(postnominal) probe. The probe is detects the elastin gene. A celestial latitude sample is taken, usually during childhood, and is then treated with ii precise colored markers that fluoresce when exposed to ultra-violet light. One of the markers attaches to each of the two copies of chromosome number seven in a cell. When both copies of the chromosome bewitch the elastin gene, an additional fluorescence of anoth er(prenominal) color is seen attached at another pickle to each of the two chromosome 7s. However, since Williams Syndrome patients have only adept repeat of the elastin gene, only one spot will fluoresce. The molecular try on is 95% accurate, only because 95% of patients show the hemizygous deletion (www.wsf.org). at that place does not seem to be an evolutionary benefit to Williams Syndrome.

The allele is maintained in the population because people with Williams Syndrome have a 50% chance of passing the disease onto their children since it is a hemizygous deletion. Williams Syndrome is estimated to pin e in 1/20,000 births. It affects males and ! females equally and can occur in all ethnic groups. There is certainly a heroical financial burden for the family. Also, not all people with Williams Syndrome ar capable of living on their own, so it is a tender issue of what the best living situation is for these people. Many people... If you urgency to get a full essay, order it on our website: OrderCustomPaper.com

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