Result from alteration involve single gene . Result from defect in synthesis or structure of fibrillar collagens - It affects joint and prone to dislocation
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- Marfan syndrome is due to a mutation in a gene that encodes aprotein called fibrillin-1. It is inherited as a dominant trait. Thefibrillin-1 protein is the main constituent of extracellular microfibrils.These microfibrils can exist as individual fibers or associatewith a protein called elastin to form elastic fibers. People with thedisorder tend to be unusually tall with long limbs, and they mayhave defects in their heart valves and aorta. Let’s suppose aphenotypically unaffected woman has a child with a man whohas Marfan syndrome.A. What is the probability this child will have the disease?B. If this couple has three children, what is the probability thatnone of them will have Marfan syndrome?Explain why the telomeres of people with DKC are shorter than normal.If diseases such as cardiovascular disease (hypertension and atherosclerosis) are familial, is this an indication that there is a genetic contribution to these traits? What would you do to confirm that genetics is involved in this condition?
- Define these pairs of terms, and distinguish between them. Patau syndrome/Edwards syndromeRetinoblastoma is a rare cancer in which tumors developin the retina of the eye. The tumors arise because of theloss of the Rb gene, which codes for a tumor suppressor.Hereditary retinoblastoma usually appears in children whohave inherited only one functional copy of Rb. Explain whythe nonhereditary form of retinoblastoma usually occurs laterin life.Which of the following are characteristics of aging cells (select all that apply)? A. Chronic inflammation results in premature shortening of telomeres B. Lengthening of telomeric DNA sequence C. Accumulation of telomere-dysfunction–induced foci (TIFs) D. Older cells produce more telomerase E. Increased erosion of telomeres
- discuss the cellular senescence, DNA damage and chronicn inflammation, in regards to effects of ageing on the functionality of T. For each one provide a diagram to back answer. Proivdes examples on what disease can arise if there are any complicaions. Give age ranges.how the genes are related to intellectual disability in detailsDistinguish between dominant inheritance and recessive inheritance in retinoblastoma.
- The father of five children begins to show symptoms of huntington disease. what is the probability that same, the man's second oldest son (11-2),, will suffer from the disease if he lives a normal life span? Sam's mother and her ancestors do not have the diseas. Sam's father was adopted, so we do not know his biological family history for hunutington disease. Explore all possible outcome for sam and explain your reasoningDiscuss two reasons why the therapeutic use ofembryonic stem cells can present a problem.____________ is the process through which a tumor supports its growth by creating its own blood supply. metastasis angiogenesis neoplasm malignant tumor