Lecture 2: Pedigree Analysis
After this lecture, you should be able to answer the following:1. What are the conventional symbols used in human pedigree analysis?
2. Draw a sample pedigree of Y-linked inheritance.
3. From whom do we inherit mitochondrial genes?
4. Draw a sample pedigree of an X-linked dominant pedigree. What are some examples of X-linked dominant diseases?
5. If an female carrier of an X-linked recessive gene mates with a normal male, what percentage of daughters will be affected? What percentage of daughters will be carriers? What percentage of males will be affected? What are some examples of X-linked recessive disorders?
6. What is the defect that causes hemophila type A? How is this disorder currently treated?
7. Draw an autosomal dominant pedigree. What type of pedigree is observed in a family with a history of Huntington's Disease?
8. What is Tay-Sach's disease? What is the Tay-Sach's phenotype?
9. What is Cystic Fibrosis? What is the CFTR? What is the molecular basis for most cases of the disease? What kinds of pharmacological therapies have been used to treat the disease? What other type of therapy has been tried? What kind of delivery system is being used to deliever the normal CF gene?
KIT CORNER:
Vybrant Multidrug Resistance Assay Kit
1. What happens to calcein AM when it is absorbed into normal cells? Does an intracellular esterase change it to a fluorescent product? What about in drug-resistant cancer cells which overexpress Pgp on their surface? Will calcein AM be converted as easily to a fluorescent product in such cells? so, is the nonfluorescent calcein AM a substrate for Pgp? Why is the cellular expression of P-glycocoprotein relevant to cancer chemotherapy?
Amplex Red Cholesterol Assay Kit
1. True or false? This kit uses a reagent which will exhibit fluorescence in the presence of cholesterol. Blood samples containing high levels of cholesterol will exhibit more fluorescence than blood samples with low levels. Why is it important to know the blood levels of cholesterol?
HT Superoxide Dismutase Assay Kit
1. How are superoxide radicals generated in the body? Why is this radical dangerous to cells? What enzyme will help detoxify this free radical? What is the chemical reaction that is mediated by SOD? Is this a colorimetric assay?
MTT Assay Kit
1. This assay measures the function of which organelle within cells? Compared to cells with high metabolic activity, such as proliferating immune cells, would the MTT reagent be more rapidly or less rapidly reduced in cells with low metabolic activity?
p53 Assay Kit
1. Is p53 an important protein in suppressing the growth of cancer cells? What do you predict would happen in normal healthy cells if those cells acquire a mutation in p53? will those cells be more likely or less likely to start proliferating?
posted by Blase Billack, Ph.D. @ 5:21 PM
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