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Different between Congenital and genetic defects. ?
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- Comparision of mutation and genetic disorders?What are genetic disorders? Give some examples?Trait: NeurofibromatosisThe dominant form is neurofibromatosis, caused by the production of an abnormal form of the protein neurofibromin. Affected individuals show spots of abnormal skin pigmentation and non-cancerous tumors that can interfere with the nervous system and cause blindness. Some tumors can convert to a cancerous form.The recessive form is a normal protein - in other words, no neurofibromatosis. Situation:Karina wants to know from whom she got her disorder. Her grandmother Ana has neurofibromatosis. Ana marries Angelo, who does not have the disease. They both have children named Christine (eldest), Monica, Joseph, Marco, and Yna (youngest). Monica, Marco, and Yna have the disorder out of the five children. Christine marries a man with the disorder, and they have two daughters, Kadita and Karina, who both have the disorder, and another daughter, Karrie, who does not have neurofibromatosis. Yna, on the other hand, marries a man with the disorder. They have four children,…
- What are Genetic defects?TRAIT: BENT FINGER 1. What are the roles of the DNA, genes and proteins in a given trait?2. How would you relate the individual trait or characteristics to proteins,genes and DNA?3. Would the manifestation of a trait be affected once the DNA nor the genesare altered?Why Many Inherited Diseases Result from Multiple Genetic Defects?
- Autism: Describe the following for autism : the heredity patterns, pedigree does the disease/ disorder, Symptoms,Treatment and IncidenceK.S. comes for a clinic visit to determine whether she is pregnant. She is very concerned because she suspects there may be a genetic disease in her family. On further questioning, you find out that her brother’s son has the disorder. Her brother’s other children (a boy and a girl) are unaffected. K.S.’s parents, grandparents, and other siblings (a brother and two sisters) do not have manifestations of the disorder. Her brother’s wife has said that she thinks one of her distant relatives may have had the disease. Discussion Questions If the disorder is indeed inherited as a single-gene defect, do you think it is autosomal dominant, autosomal recessive, or X linked? Justify your answer. Construct a pedigree chart and predict the likelihood that K.S. has the defective gene.Establish the corresponding inheritance pattern. Explain.