Exam 15: Gene Mutation and Molecular Medicine

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Multifactorial (complex) diseases

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Refer to the figure. Refer to the figure.   The figure shows STR patterns at a hypothetical locus in a family in which some individuals develop high cholesterol.Immediately below the STR patterns are the cholesterol levels of each corresponding individual.Do the patterns in the figure prove that the STR locus has a causal role in cholesterol levels? Explain. The figure shows STR patterns at a hypothetical locus in a family in which some individuals develop high cholesterol.Immediately below the STR patterns are the cholesterol levels of each corresponding individual.Do the patterns in the figure prove that the STR locus has a causal role in cholesterol levels? Explain.

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Genetic screening

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Treating a disease by supplying a missing protein is an example of modifying the _______; somatic cell gene therapy is an example of modifying _______.

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Drosophila melanogaster flies that have the Shaker mutation appear normal at room temperature.If you hold a vial of flies with this mutation for a few minutes (i.e., warm the vial to body temperature, or 37oC), the flies become uncoordinated because of the warmth of your hand.If you remove your hand, the flies soon recover.Based on this information, which statement about the Shaker mutation must be true?

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Bacteria add _______ to their DNA to protect it from their own restriction enzymes.

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A _______ cell is a germ line cell.

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Refer to the figure. Refer to the figure.   The restriction enzyme EcoR1 recognizes the palindromic sequence of GAATTC.You know the sequence of a protein but not the DNA sequence.You would like to have an idea about where in the gene there could be EcoR1 active sites.Which two consecutive amino acids could have nucleotide codons that would generate an EcoR1 active site in the DNA sequence? The restriction enzyme EcoR1 recognizes the palindromic sequence of GAATTC.You know the sequence of a protein but not the DNA sequence.You would like to have an idea about where in the gene there could be EcoR1 active sites.Which two consecutive amino acids could have nucleotide codons that would generate an EcoR1 active site in the DNA sequence?

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In a gel electrophoresis experiment, researchers notice that one DNA band on the gel appears much darker than the others.The DNA fragment forming the band is most likely _______ than the others.

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Which statement regarding short tandem repeats (STRs) is false?

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Parkinson's disease is associated with too little production of GABA.Which therapy would be most appropriate to treat this disorder in an adult?

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Mutations that exhibit the altered phenotype under certain restrictive conditions are referred to as _______ mutations.

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Restricting the substrate would most likely be an effective treatment in cases when

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The first three nucleotides of one strand of a six-base palindromic restriction site are 5ʹ…AGC.Thus the next three nucleotides should be _______ (show orientation).

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Which DNA sequence forms a palindromic sequence?

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Analysis of the abnormal white blood cells of a patient with leukemia, a type of cancer, reveals that a protein, termed LP, is always functionally active.In normal white blood cells this protein is found to be only functionally active in response to growth stimuli that induce cell division.Surprisingly, sequencing of leukemic cell DNA shows that both LP alleles in the patient's leukemic cells are normal.However, the DNA sequencing also reveals that both alleles of protein ILP, which normally inhibits LP activity in the absence of growth stimuli, have each acquired a mutation.Further research proves that these _______ mutations in both ILP alleles are the reason why LP is always active and, consequently, induces the leukemic cells to constantly undergo cell division.

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A baby is failing to thrive and has urine with an abnormal odor.Analysis of the baby's urine reveals that it contains amino acids not normally excreted in urine.The urinalysis results and poor health of the baby strongly suggest that the baby has a _______ disease.

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In a gel electrophoresis experiment, researchers notice that one band has migrated much farther on the gel than the others.They conclude that it is _______ than the others.

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A restriction enzyme cuts a 23,500 bp segment of DNA into three fragments.Fragment A is 7,800 bp, and fragment B is 10,600 bp.How long is fragment C, and which of the fragments will move the farthest in an electrophoresis gel?

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Which of the following treatments involves restricting the substrate?

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