Medical Genetics Review

Spring 2013 Kaufman

(1) The number of copies a gene present in a sample of genomic DNA can best be determined by 1. 2. 3. 4. 5. Northern blotting Southern blotting Western blotting Eastern blotting polymerase chain reaction (PCR)

(2) The level of mRNA expressed by cells can best be determined by 1. 2. 3. 4. 5. Northern blotting Southern blotting Western blotting Eastern blotting polymerase chain reaction (PCR)

(3) The technique most useful in determining the base sequence of a gene of interest is 1. 2. 3. 4. 5. Northern blotting Southern blotting Western blotting Eastern blotting polymerase chain reaction (PCR)

(4) The level of a gene product expressed by cells can best be determined by 1. 2. 3. 4. 5. Northern blotting Southern blotting Western blotting Eastern blotting polymerase chain reaction (PCR)

Medical Genetics Review

Spring 2013 Kaufman

(5) Knowing that hemoglobin X was generated by a point mutation or single base change occurring in the gene for hemoglobin A, which of the following statements is TRUE? 1. 2. 3. 4. 5. These two alleles must These two alleles must These two alleles must These two alleles must None of the above. differ differ differ differ by only a single amino acid. by more than a single amino acid. in the position of the chain terminator. in their level of transcription.

INSTRUCTIONS FOR ITEM (6): Refer to the following amino acids and their codons when answering. Alanine (Ala): GCU, GCC, GCA, GCG Lysine (Lys): AAA, AAG Asparagine (Asn): AAU, AAC Methionine (Met): AUG Cysteine (Cys): UGU, UGC Tryptophan (Trp): UGG Glycine (Gly): GGU, GGC, GGA, GGG The corresponding hexapeptides of an enzyme from a normal individual and from a patient with metabolic disease have the following amino acid sequences: Amino Acid #: 11 Normal: AlaPatient: Ala12 13 14 15 16 Asn- Met- Trp- Met- Lys Lys- Cys- Gly- STOP

(6) Which of the following events MOST likely produced the mutant allele coding for the patients enzyme? 1. 2. 3. 4. 5. Base substitutions in codons 12, 13, 14 and 15. Insertion of a base into codon 12. Deletion of a base from codon 12. Insertion of a base into codon 12 and a base substitution in codon 15. Deletion of a base from codon 12 and a base substitution in codon 15.

(7) Which of the following structural elements of the human -globin gene is known to be a target for mutations resulting in abnormal hemoglobin production? 1. 2. 3. 4. 5. The promoter The splice junctions The stop codon All of the above None of the above

Medical Genetics Review

Spring 2013 Kaufman

DATA FOR ITEM (8): Ultraviolet light (UV) is used to irradiate and mutagenize the following DNA sequence. G-C-T-A C-G-A-T (8) Which of the following is the MOST likely sequence of the mutated DNA? 1. G-G-T-A C-C-A-T 3. G-T-T-A C-A-A-T 5. None of the above 2. G-T-A C-A-T G-C-C-A C-G-G-T

4.

(9) The MOST common mechanism leading to -thalassemia involves 1. 2. 3. 4. 5. frameshift mutations. missense mutations. unequal crossing over. nonsense mutations. gene duplication.

DATA FOR ITEM (10): A patient with hemophilia A (Factor VIII deficiency) has a protein that is antigenically similar to Factor VIII but is functionally inactive. The remainder of the clotting system appears to be intact. (10) The mutational event leading to the disease in the patient described above MOST likely involves 1. 2. 3. 4. 5. a a a a a +1 frameshift mutation in the Factor VIII gene promoter. missense mutation in the Factor VIII gene promoter. nonsense mutation in the Factor VIII gene promoter. missense mutation in the first exon of the Factor VIII gene. missense mutation in the first intron of the Factor VIII gene.

Medical Genetics Review

Spring 2013 Kaufman

DATA FOR ITEM (11): Refer to the following diagram when answering. Taq1 cuts at TCGA.

2kb CHROMOSOME A 5kb ...TCGA... B ...TTGA... ...TCGA... ...TCGA...

3kb ...TCGA...

...TCGA...

PROBE

5kb 3kb 2kb AA AB BB BLOT 1 AA AB BB BLOT 2 AA AB BB BLOT 3

(11) Which of the Southern blots depicted above would be generated by the DNA shown above when digested with Taq1 and probed with the given probe? 1. 2. 3. 4. Blot 1 Blot 2 Blot 3 None of the above.

Medical Genetics Review ANSWER KEY: QUESTION #1: QUESTION #2: QUESTION #3: QUESTION #4: QUESTION #5: QUESTION #6: QUESTION #7: QUESTION #8: QUESTION #9: QUESTION #10: QUESTION #11: 2 1 5 3 5 3 4 3 3 4 1

Spring 2013 Kaufman