Only 3 persons may use the same disorder, so choose wisely. Use the \"More Tools
ID: 87877 • Letter: O
Question
Only 3 persons may use the same disorder, so choose wisely. Use the "More Tools", "Groups", tool to find a sign up sheet for several disorders to be discussed in this post. You will be composing an essay with different paragraphs addressing the information posted below. If the format of your post is in question/answer format rather than a coherent essay, you will lose points.
Disorder:Maple Syrup Urine disease
1. Perhaps you an /or your significant other is a carrier of a harmful recessive trait, such as cystic fibrosis. What would you do when considering having children? Would you hope for the best and ignore the situation or would you see a genetic counselor or what?
2. Select a genetic disorder from the "groups" list. Don't forget to sign up for it. Explain what type of genetic defect or disorder it is. Explain how this genetic anomaly occurs. Is it autosomal or sex linked? Is it dominant, recessive or aneuploidy? You should include what the effects are for individuals, what are the survival rates, is there a higher risk in certain populations, and any other interesting information.
Explanation / Answer
cystic fibrosis is a genetic disorder which is inherited in an autosomal recessive manner and caused by the mutation in both copy of gene( from each parents) which code for cystic fibrosis transmembrane conductance regulator (CFTR) protein and this build up the sticky mucus in lungs, pancreas,kidney,liver and intestine.
Lungs- People who have cystic fibrosis struggle with difficulty breathing and coughing up mucusand cause the chronic lung infection.
Maple Syrup Urine disease
if you have a genetic disorder is to seek genetic counselling so you know your chances of having a child with the CF.There are also various method to reduce the genetic illness during praganancy (prenatal test) for example Chorionic villus sampling and Amniocentesis.
Genetic counseling helps you understand how genes, birth defects and medical conditions affect your family’s health and help you make decisions about your pregnancy and your baby’s care.
Maple Syrup Urine disease is an autosomal recessive metabolism disorder passed down through families.The person who have MSUD cannot break down the amino acids leucine, isoleucine, and valine.The name due to presence of sweet-smelling urine, an odor similar to that of maple syrup.
Infants with this MSUD disease seem healthy at birth but quickly deteriorate can damage the brain during times of physical stress and some time cause severe brain damage.
Genetic counseling is suggested for person who have family history with MSUD may state for blood test.
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