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IB Biology Pedigree Case Study
Transcript of IB Biology Pedigree Case Study
By Nick Adams &
Brittni Clopton :) FIN :) Case Study #2 By: Nick Adams and Brittni Clopton Huntington's Disease causes the continuous breakdown of nerve cells (neurons) in the brain. The CAG Trinucleotide Repeat There is a segment of DNA that contains three nucleotides and the segment is repeated multiple times. Impacts people's functional abilities and causes disorders in their thinking, psychiatric, and movements. This degeneration causes extreme uncontrolled movements and emotional disturbance. What would you suggest Jim and Cindy do? Pregnant: There are options to do Prenatal testing. Then if found that the child is positive for HD, then they can go to genetic counseling.
- Vitro fertilization with pre-implantation screening. Embryos are screened to determine which does not have the mutation, then are then implanted in the woman's uterus.
OR not have a natural birth and... Decide to adopt a child if they wish. Or... Have a pet :) What would you recommend to Tony? Pedigree Genetic cause of Huntington's disease Huntington's Disease So to explain the cat... NICHOLAS MICHAEL ADAMS did that weird Cat thing... He's a weirdo :)
- BRITTNI :D Jim's grandfather died 15 years ago, but his grandmother, Edith, is still healthy and stays busy with her card group. They had six children, at oldest of which is Jim's mother, Sandy. Sandy was diagnosed with Huntington's Disease 5 years ago. Her brother Dave was diagnosed 3 years ago and her sister Karen just diagnosed. The other three brothers, Kevin, Adam, and Mark, do not show signs of Huntington's. Jim and his wife Cindy have been married 6 years now. They have both secured good jobs and are thinking about starting a family. Jim's brother Tony has two children, a boy, Robbie and a girl, Nikki. Huntington's Disease A mutation in the HTT gene, which makes the instructions for making the protein Huntington, causes Huntington's disease.
As of right now there is not a known function of this protein. What is the possibility that Jim and Cindy's first child would be affected by Huntington's disease? Chromosome 4 out of the 23 chromosomes, carries this disorder. There is an equal chance for both Jim and Cindy's child, whether boy or girl. to acquire it. Because Jim is infected with the disease if he has a son, his son will not inherit the disorder. His daughter on the other hand will be a carrier. What are the treatment options for Sandy, Dave, and Karen? This DNA only replicates 10 to 35 times in people that do not have HD. In people with HD, it is repeated from 36 to sometimes more than 120. There are no cures for HD, but there are steps to take as the illness progresses...
- Care Takers
- Genetic Counselors
- Speech Therapy
- Continuous Exercise Routine
- Allow plenty of time for meals
- Cut food into very small amounts to avoid choking
- Proper Nutrition (Sometimes 5-meals a day)
- Large Quantities of Fluids People with 36 to 40 of the segments have a chance of not having any symptoms. If you have more than 40, then it's going to affect you. The degeneration, mainly in the Basal Ganglia which controls thought, perception, coordinating movement, and memory, happens the most. WOOF!!!!! Tony's Daughter: - Inform her of the disorder- Have Regular Check-ups - If no symptoms occur, leave it be but let her partner know (before they are married)Tony: - Inform his Partner & Children- Start making plans for regular check-ups to detect any abnormalities in his behavior. - Perhaps hire a care taker once he starts losing basic abilities. To explain why it's saying Woof!!!!! BRITTNI JORDAN CLOPTON decided to be even weirder than me. By the way, the cat was already there -Nick