AAMC 3 - Bio/Biochem Flashcards
Based on the information in the passage, what is the most likely mechanism of inheritance for HPRCC?
A. Autosomal dominant
B. Autosomal recessive
C. X-linked recessive
D. Y linked
A. Autosomal dominant
AAMC: The answer to this question is A because the allele must be inherited in a autosomal dominant pattern in order for individuals II-1 and II-2 to produce both affected and unaffected offspring. The inheritance pattern for the offspring of these individuals is consistent with autosomal dominant if the parents are heterozygous. The rest of the pedigree is consistent with this mode of inheritance as well. In addition, the offspring of individuals II-1 and II-2 rule out autosomal recessive, X-linked recessive, and Y-linked. It is a Scientific Reasoning and Problem Solving question because in addition to interpreting the pedigree shown in the figure, it requires forming a hypothesis regarding the genetic transmission pattern of HPRCC.
Jack Westin Advanced Solution:
This aligns with our pedigree analysis and mechanism of inheritance flowchart. Males are not truly disproportionately affected (see above) so autosomal is more likely than sex-linked. Also, two affected parents had unaffected offspring which means that it is a dominant mechanism of inheritance. If it were recessive, II-1 and II-2 would only be able to pass down recessive alleles and all of their children would be homozygous recessive and affected. Because III-1 and III-3 are not affected, the parents must both be heterozygous and only have one copy of the dominant allele.
DNA sequence analysis was performed on normal kidney tissue from an unaffected individual and on tumor tissue from an affected individual. The region of the DNA containing the MET mutation is shown.
Based on these results, the MET mutation is what type of mutation?
A. Purine to purine
B. Purine to pyrimidine
C. Pyrimidine to purine
D. Pyrimidine to pyrimidine
D. Pyrimidine to pyrimidine
AAMC: The answer to this question is D because by comparing the band patterns of the two analyses, the only difference between the two sequences is the ninth base; the normal sample contains a T, and the tumor sample contains a C. Both T and C are pyrimidines, which makes the mutation pyrimidine to pyrimidine.
Which amino acid residue is involved in the bond that joins the α and β subunits of HGF through a disulfide linkage?
A. A
B. C
C. S
D. Y
B. C
Disulfide bonds form between cysteine residues.
Which of the following animal pairs best illustrates the outcome of convergent evolution?
A. The dolphin and the shark
B. The domestic sheep and the mountain goat
C. The polar bear and the panda bear
D. The light-colored and the dark-colored forms of the peppered moth
A.The dolphin and the shark
AAMC: The answer to this question is A because convergent evolution is defined as a process whereby distantly related organisms independently evolve similar traits to adapt to similar needs.
Kallman Syndrome is a disease in which gonadotropin-releasing hormone producing neurons fail to migrate from the olfactory area to the hypothalamus during embryonic development. Which endocrine axis is disrupted in individuals with Kallman Syndrome?
A. The stress axis
B. The growth hormone axis
C. The thyroid axis
D. The reproductive axis
D. The reproductive axis
AAMC: The answer to this question is D because gonadotropin-releasing hormone regulates pituitary gonadotropin (luteinizing hormone and follicle-stimulating hormone) secretion.
Thus, if gonadotropin-releasing hormone is not able to regulate luteinizing hormone and follicle-stimulating hormone secretion from the pituitary, the reproductive axis will remain quiescent.
Which statement correctly identifies an enzyme involved in DNA replication and describes its primary function?
A. Ligase catalyzes the binding of RNA primers to DNA via phosphodiester bonds.
B. Primase catalyzes the replacement of RNA primer nucleotides with DNA nucleotides.
C. Helicase catalyzes the separation of the parent DNA strands at the origin of replication.
D. Topoisomerase catalyzes the joining of adjacent Okazaki fragments into a continuous strand of DNA.
C. Helicase catalyzes the separation of the parent DNA strands at the origin of replication.
AAMC: The answer to this question is C because during DNA replication, helicase catalyzes the unwinding and separation of the parental DNA strands, so that each can be replicated.
Jack Westin Advanced Solution:
Helicase “unzips” the strands of DNA at the beginning of replication. This occurs at the origin of replication. This is the best answer.
Proteases fall under what major class of enzymes?
Proteases are Hydrolases
They break peptide bonds by the addition of water
Which type of membrane transport is directly affected by cardiac glycoside Na+/K+ ATPases?
A. Simple diffusion
B. Facilitated diffusion
C. Primary active transport
D. Secondary active transport
C. Primary active transport
___________ of histone proteins decreases the positive charge on lysine residues and weakens the interaction of the histone with DNA, resulting in a(n) ______ chromatin conformation that allows for easier access of the transcriptional machinery to the DNA.
Acetylation of histone proteins decreases the positive charge on lysine residues and weakens the interaction of the histone with DNA, resulting in an open chromatin conformation that allows for easier access of the transcriptional machinery to the DNA.
Histone acetylases (acetyltransferases) loosen chromatin and promote transcription
Histone _________ are proteins that function to remove acetyl groups from histones, which results in a(n) ______ chromatin conformation and overall ________ in gene expression levels in the cell.
Histone deacetylases are proteins that function to remove acetyl groups from histones, which results in a closed chromatin conformation and overall decrease in gene expression levels in the cell.
Histone deacetylases condense chromatin and decrease transcription
Histone deacetylases (HDACs) change chromatin by:
A. decreasing its coiling and promoting DNA replication.
B. increasing its condensation and inhibiting transcription.
C. decreasing charge repulsion between acetyl groups, which increases transcription.
D. loosening the attachment of DNA to nucleosome core particles.
B. increasing its condensation and inhibiting transcription.
Histone deacetylases condense chromatin and decrease transcription
The adrenal medulla is part of which branch(es) of the peripheral nervous system?
A. The somatic nervous system only
B. The sympathetic branch of the autonomic nervous system only
C. The parasympathetic branch of the autonomic nervous system only
D. Both the sympathetic and the parasympathetic branches of the autonomic nervous system
B. The sympathetic branch of the autonomic nervous system only
AAMC: The answer to this question is B because the adrenal medulla secretes epinephrine and norepinephrine in response to short-term stress. Reactions to short-term stress are mediated by the sympathetic branch of the autonomic nervous system.
Which of the following best describes the chemical energy that is derived from the Krebs cycle? Energy is produced in the forms of:
A. ATP, which directly supplies energy for many cellular processes, and NAD+, which supplies energy for the electron transport chain.
B. NAD+, which directly supplies energy for many cellular processes, and ATP, which supplies energy for the electron transport chain.
C. ATP, which directly supplies energy for many cellular processes, and NADH, which supplies energy for the electron transport chain.
D. NADH, which directly supplies energy for many cellular processes, and ATP, which supplies energy for the electron transport chain.
C.ATP, which directly supplies energy for many cellular processes, and NADH, which supplies energy for the electron transport chain.
AAMC: The answer to this question is C because the Krebs cycle produces both ATP and NADH but not NAD+. ATP directly supplies energy for many cellular processes, such as muscle contraction, and NADH, which is used in the electron transport chain.
The average osmotic pressure of ocean water is 28 atm corresponding to a concentration of 0.50 M solutes (approximated as NaCl). What is the approximate concentration of solutes (also approximated as NaCl) present in blood with an osmotic pressure of 7 atm?
A. 0.12 M
B. 0.25 M
C. 2.0 M
D. 3.5 M
A. 0.12 M
π = MRTi
AAMC: The answer to this question is A because osmotic pressure is directly proportional to solute concentration. Since the osmotic pressure of blood is one-fourth that of ocean water, the solute concentration is also one-fourth that of ocean water, or 0.25 × 0.50 M = 0.12 M.
Describe an imprinted gene
An imprinted gene is one in which only one copy is expressed based on parent of origin.
Individuals have 2 copies of the gene as usual, one from mom and one from dad. However, the gene will only be expressed from the maternal or paternal chromosome. i.e. in Angelman’s syndrome, only the maternally-inherited copy of the gene is active. The silencing of the other (paternal) copy is achieved via epigenetic marking.