Heredity & Society, Fall 2008
STUDY GUIDE FOR EXAM 2

Chap. 10 (p. 218-225, 228-233)
   Understand: the connection between genotypes and phenotypes.
                how different versions of genes encode different versions of proteins.
                how a change in the amino acid sequence in a protein can change the protein's function
   For each of these genetic conditions:
                hypopituitary dwarfism
                familial hypercholesterolemia
                sickle cell anemia
                phenylketonuria (PKU)
           understand:
                which gene is defective
                the normal role of the protein specified by that gene
                the symptoms of the disease
                why the symptoms occur
  For sickle cell anemia, understand the phenotypes that go with each of these genotypes:
                2 normal genes; 1 normal and 1 mutant gene; 2 mutant genes
  Understand what lactose intolerance is, what the normal role of the gene is, and why it should not be considered a genetic disorder.

Chap. 11 (p. 244-261)
Understand the effect each of these changes in DNA can have on the protein specified by a gene:
        Nucleotide substitutions:  missense, nonsense, silent
        Insertions and deletions, frameshift mutations
Understand what expanding trinucleotide repeats are and know some genetic diseases that are caused by them.
Understand the respective consequences of mutations in somatic cells and in germline cells.
Know how radiation, chemical mutagens, and mistakes in replication affect DNA.
Know how DNA damage can be repaired.
Know how DNA damage can be prevented.
Know examples of radiation and chemical mutagens covered in class.
Understand why mutagens are carcinogens.
For xeroderma pigmentosum, understand the normal role of the genes that are mutated and the reasons for the symptoms of this disorder.

Genetic Screening and Testing (p. 12-13, 324-331, 335, 370-371)
   Understand what these are and when each would be appropriate:
           genetic screening
           carrier testing
           preimplantation genetic diagnosis (also called embryo testing or testing embryonic blastomeres)
           prenatal genetic testing
           presymptomatic genetic testing
Understand how preimplantation genetic diagnosis is done.
Know what DNA chips are and what they are used for.
Understand the ethical issues raised by genetic tests.

Gene Therapy (p. 372-376)
Understand what gene therapy is and how it is done.
What disease was first treated with gene therapy?  What are its symptoms?  What cells were treated?  Did the treatment work?
What is the current status of gene therapy?
Understand the ethical issues raised by gene therapy.

Genetic Counseling (p. 376-378)
Understand the role of genetic counseling and the issues it can raise.