Problemset1SP13_000

Ii the couple iii 4 and iii 5 are expecting a child

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ii. The couple III-4 and III-5 are expecting a child. What are the chances of this child to have the disease? Would the answer depend on the sex of the child?
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6. The following pedigree belongs to a family with incidences of Hemophilia A, an X-linked recessive disease. What are the chances of the child IV6 to be a hemophiliac? Will your prognosis depend on the sex of the child? If so, how? Briefly explain your reasoning. 7. What is the type of inheritance of Achondroplasia (autosomal/sex-linked, dominant/recessive)? Explain the molecular basis of Achondroplasia: which gene is mutated? What class of molecules does it belong to? What are the molecular and cellular consequences of this mutation? Would you consider intravenous administration of a drug that inhibits Erk as a potential treatment for Achonrdoplasia in children? Explain the pros and cons of this treatment, considering its possible side effects. 8. FGFR3 is a member of a large family of receptors known as receptor tyrosine kinases, or RTKs. Describe the normal mechanism of RTK signaling, including the events that lead to RTK activation and the downstream events (focusing on Ras branch of the pathway): what molecules transduce RTK signaling and how the activation of an RTK leads to changes in proteins’ activity and gene expression? 9. To study the FGFR3 pathway in more detail and to understand which proteins it interacts with
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ii The couple III 4 and III 5 are expecting a child What...

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