genetics final Flashcards

1
Q

Which of the following examines all of proteins produced by a cell/organism?

A

Proteomics

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2
Q

What components make up TFIID?

A

TBP (2x) and TAF

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3
Q

The genotypes of humans are more than 99%. What is the term that describes the alternative forms of genes that contribute to human genetic variation?

A

Alleles

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4
Q

What name is given to the region of a mature, processed mRNA between start and stop codons?

A

Coding region

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5
Q

Which of the following is NOT required for proper slicing of introns in most mRNA molecules?

A

GT dinucleotide at the 5’ end of the preceding exon

IS required:
Adenine branch point about 30 bp upstream of the 3’ end of the intron
GU dinucleotide at the 5’ end of the intron
AG dinucleotide at the 3’ end of the intron

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6
Q

Below is the sequence of the following coding strand of DNA that flanks the coding region of the GFP gene. Select the sequence for the reverse primer that you would use to amplify the GFP gene.
5’ ATCGGG–GFP gene–TTAGAC 3’

A

5’ GTCTAA 3’

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7
Q

A cell is able to replicate DNA, but it is unable to completely seal the backbones on one of the two strands. Which enzyme is likely defective?

A

Ligase

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8
Q

Polyadenylation begins with the binding of ___________ near a six-nucleotide mRNA sequence AAUAAA, downstream of the stop codon.

A

the cleavage and polyadenylation specificity factor (CPSF)

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9
Q

In which cellular structure do mRNA codons pair with tRNA anticodons?

A

the ribosome

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10
Q

Transcription of inverted repeats produces an mRNA with complementary segments. What type of secondary structure do they form through folding?

A

Stem-loops

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11
Q

Which of the following uses transcription factors that bind to ICRs within the transcribed region of the gene?

A

RNA Pol III

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12
Q

Intrinsic termination of transcription in bacteria requires which of the following?

A

Formation of a hairpin in the nascent RNA followed by a string of uracil nucleotides

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13
Q

Which of the following is NOT TRUE of telemerase?

A

It reads DNA as a template and synthesizes RNA as a product

IS TRUE:
It is a ribonucleoprotein since it possesses both a protein and an RNA component
It adds DNA nucleotides to the 3’ end of the 5’ parental strand
It is typically active in cancer cells
Its activity and telomere length have been linked to the aging process

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14
Q

Which enzyme is responsible for transcription of most tRNA genes?

A

RNA polymerase III

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15
Q

What would most likely occur if a DNA mutation completely deleted an enhancer sequence?

A

Transcriptional rate would decrease

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16
Q

Which enzyme initiates the 5’ capping of the mRNA?

A

Guanylyl transferase

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17
Q

Determine the -10 consensus sequence for the following sequences.

A

look for most common nucleotide between the strands

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18
Q

Which of the following enzymes/proteins does NOT break or form any bonds?

A

SSB (single stranded binding protein)

DOES:
helicase
DNA Ligase
DNA Pol I
DNA Pol III

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19
Q

Which region(s) of the gene are NOT found within the mRNA transcript?

A

promoter and termination regions

IS found:
stop codon

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20
Q

Certain classes of drugs target the enzyme responsible for relaxing DNA super-coiling ahead of the replication bubble. By preventing this enzyme from reducing the strain, the DNA often experiences random breaks and fragments, ultimately killing the cell. Which enzyme is being targeted by this type of drug?

A

Topoisomerase

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21
Q

In the Meselson/Stahl experimental technique, which of the following would be expected following one round of replication? (Assuming semiconservative replication)

A

14N/15N

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22
Q

Which of the following happens first?

A

TFIID binds to TATA box

other options:
A 5’ Cap is added
RNA Pol II binds
Synthesis of the pre-mRNA begins at the +1
TFIIE and TFIIH bind

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23
Q

Which of the following BEST describes the enzymatic activity of Torpedo in transcription termination in Eukaryotes?

A

5’ to 3’ exonuclease

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24
Q

Which form of DNA is commonly seen in eukaryotic cells?

A

B-form

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25
Q

Sickle cell disease (SCD) is found in populations whose ancestral homes are in the malaria belt of Africa and Asia. SCD is an autosomal recessive for a mutant beta-globin gene allele. Data on one affected population indicates that approximately 10 in 250 newborn infants have SCD. In this population, what is the expected frequency of heterozygote (Aa) carriers of SCD?

A

0.32

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26
Q

Bacterial transcripts often contain more than one coding sequence. What term is used to describe RNA molecules such as these that contain multiple units in one RNA molecule?

A

Polycistronic

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27
Q

Which type of RNA base-pairs with pre-edited mRNA to allow the transcript (and potentially the protein product) to be edited?

A

gRNA

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28
Q

What is the full name given to origins of replication in Saccharomyces ceravisae?

A

Autonomously Replicating Sequences (ARS)

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29
Q

Write the full name of this nucleotide as completely as possible. (diagram)

A

adenosine 5’ triphosphate

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30
Q

How can you tell that it is an RNA molecule?

A

the 2’ carbon has an O

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31
Q

You and your spouse decide that you’d like to have 7 children. You’d prefer to have 3 boys and 4 girls but you don’t really care what order the children come in. What is the probability that if you in fact have 7 children you will get the mix you are hoping for?

A

0.27

( 7! / 3!4! ) x (1/2)^3 x (1/2)^4

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32
Q

What molecule provides the energy for translation initiation?

A

GTP

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33
Q

Which of the following statements best describes the function of aminoacyl tRNA synthetase?

A

It attaches a specific amino acid to a tRNA molecule.

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34
Q

During bacterial translation elongation, the charged tRNA pairs with the codon, and GTP hydrolysis occurs. What is released from the translation complex immediately following GTP hydrolysis?

A

EF-Tu-GDP

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35
Q

Which segment of a eukaryotic protein is often removed as part of transmembrane passage or vesicle transport?

A

Leader regions

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36
Q

A ________________ is an enzyme that removes phosphate groups from an amino acid in a protein chain?

A

Phosphatase

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37
Q

Imagine you are a geneticist 60 years ago attempting to decipher the genetic code. You create a synthetic mRNA composed of repeating TA dinucleotides. Based on what we now know, if this mRNA was translated, what amino acids would you expect?

A

Try and Ile

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38
Q

Suppose you have one plant with the genotype TTPpYy, and another plant that is recessive for all three traits. If you were to cross these two plants, what proportion of the offspring are expected to be dominant for all three traits?

A

1/4

1 x 0.5 x 0.5

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39
Q

An organism having the genotype AabbCcDDee is self-fertilized. Assuming the five gene assort independently, what fraction of the progeny are expected to have a phenotype identical to that of the parents?

A

9/16

3/4 x 1 x 3/4 x 1 x 1

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40
Q

Which of the following codons are synonymous?

A

CGC and AGG

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41
Q

A patient with monosomy is most easily diagnosed using what technique?

A

A karyotype

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42
Q

Presymptomatic genetic testing is a technique that could be used to identify which of the following examples?

A

Huntington’s disease

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43
Q

A couple comes to you for advice about genetic testing for a rare early-onset dominant condition. The paternal grandfather had the condition, but no one else in the family has had it including the male partner in this couple. What is the probability that they will have an affected child?

A

We can deduce that both of the parents in the couple lack the diseased allele, therefore, there is no chance that they will have an affected child.

44
Q

In Drosphila, straight wings are dominant to curved wings (c), smooth eyes are dominant to sparkling eyes (spa), and tam body is dominant to ebony body color (e). If flies that are heterozygous for all three traits are crossed, what proportion of the offspring would you expect to have straight wings, sparkling eyes, and tan bodies?

A

9/64

3/4 x 1/1 x 3/4

45
Q

True breeding spiders (P generation) are Long-legged with black eyes (LLBB) and short-legged with red eyes (ttbb). If the F1 generation are crossed, what phenotypic and ratio (or fractions) is expected in the F2?

A

9:3:3:1

46
Q

Which of the following sequences and/or structures are NOT part of a mature eukaryotic mRNA?

A

Promoter
Shine-Delgarno sequence
Terminator sequence
Intron(s)

IS:
Poly-A Tail
Start Codon
Stop Codon
5’- UTR
AAUAAA
3’ -UTR
5’ Cap
Kozak Sequence

47
Q

An adipocyte is a type of fat storage cell that, once fully differentiated, no longer divides. Fully differentiated fat cells are in which phase of the cell cycle?

A

G0 phase

48
Q

After chromosomes condense, the _______________ is the region where the identical DNA molecules are most tightly attached to each other?

A

Centromere

49
Q

The diploid number of chromosomes in the mustard plant, Arabidopsis thaliana, is 10. Knowing this, how many Chromatids will be present in a plant pollen cell at the end of metaphase I of meiosis?

A

20

50
Q

Which of the following is NOT true about Cohesin?

A

Is a 6-subunit hexameric protein complex

IS TRUE:
Coats sister chromatids along their entire length
holds sister chromatids together
Has its highest concentration at centromeres

51
Q

Which cell cycle checkpoint can be passed only if the cell is large enough, nutrient availability is sufficient, and growth factors are present?

A

G1/S checkpoint

52
Q

Prior to meiosis, an Pre-Oocyte cell has the genotype AaBBCcDd. What is the predicted frequency of a fully formed gamete (egg) with the genotype aBCd from this cell?

A

1/8

53
Q

In a dihybrid cross between two heterozygotes, you expect to observe a 9:3:3:1 ratio. However, after performing this type of cross you instead observe a 9:6:1 ratio in the offspring. Which type of epistasis has occurred between these two genes?

A

Dominant gene interaction

54
Q

During which phase of prophase I does crossing over between non-sister chromatids begin?

A

Zygotene

55
Q

Which of the following is correct regarding individuals who are blood type B?

A

They express B-transferase that adds galactose to the H antigen

56
Q

In humans, individuals with green eyes often carry mutations of the genes OCA2 and HERC2 on Chromosome 15. Mutations in these genes cause a reduction of melanin production below that of the “normal” brown, but above that of those with blue eyes where essentially no brown pigment is made. How would you classify this green eye mutation that produces very low, but non-zero, levels of the melanin in eyes when homozygous?

A

Hypomorphic mutation

57
Q

In 1936, researches Walter Landauer and Elizabeth Upham observed that chickens that expressed the dominant frizzle dene produced feathers that curled outward rather than lying flat against their bodies. However, this was not the only phenotypic effect of this gene – along with producing defective feathers, the frizzle gene caused the fowl to have abnormal body temperatures, higher metabolic and blood flow rates, and greater digestive capacity. Furthermore, chickens who had this allele laid fewer eggs than their wild-type counterparts. Which term below best describes this genetic situation?

A

Pleiotropy

58
Q

Imagine that you are part of a research team interested in determining the penetrance of a different PRSS1 mutation, Ala16Val. Your team has identified 350 individuals with the PRSS1 Ala16Val allele and found that 80 of the individuals showed clear evidence of pancreatitis. From your data, what is the penetrance of the PRSS1 Ala16Val mutation, state your answer in percentage?

A

23%

80/350

59
Q

What name is used to describe your blood type if you are IAi; h/h?

A

bombay phenotype

60
Q

Which of the following is a common consequence of allopolyploidy?

A

Increased fruit and flower size

61
Q

Which of the following best describes the formation of prophage?

A

It is formed by integration of a lysogentic bacteriophage genome into the host cell chromosome

62
Q

What is the name of the special type of replication required for F+ cells to donate a copy of F to F- cells?

A

Rolling circle replication

63
Q

After analysis of 100 pedigrees, the Zmax from the analysis of linkage between between a disease gene D and the DNA marker P was found to be -1.0 at theta=0.45 Which of the following is the best interpretation of these results?

A

No conclusion can be made regarding linkage of D and P

64
Q

___________ are DNA sequences that serve as the site of integration between the lambda-phage and the bacterial chromosome.

A

att sites

65
Q

The haploid number of chromosomes in one population of mice is 12 (n=12). If a Robertsonian translocation occurs in the germ cells of a mouse from this population, how many chromosomes would be present in a gamete?

A

11

66
Q

Allele A has the sequence 5’-ATTATTATTATT-3’, while alle B has the sequence 5’-ATTATTATTATTATTATTATT-3’. You have designed a PCR-based test to screen patients for the presence of either allele. Which type of common genetic marker is seen in these varients?

A

VNTR

67
Q

What is the first order of chromatin packing?

A

Coiling around nucleosomes

68
Q

Lateral Gene Transfers can be identified by the presence of DNA-sequence that have which of following characteristics?

A

A ratio of G-C / A-T that is substantially different than the rest of the genome

69
Q

A pair of homologous chromosomes in C. elegans has the following content (single letters represent, @ denotes the centromere):
Chromosome A – POILUY@TREWQGFDSA
Chromosome B – POIERE@YULWQGFDSA
What has happened in this individual?

A

paricentric inversion

70
Q

Which type bacteriophage is capable of integrating its genetic material into the host chromosome and facilitating a horizontal gene transfer via transduction?

A

Specialized transducing phage

71
Q

Instead of creating a gene map along a chromosome, _______________ is a method of analysis that detects and locates the genes that, as a group, influence form or appearance.

A

genome-wide association studies (GWAS)

72
Q

Which of the following is commonly caused by Uniparental Disomy?

A

Angelman Syndrome

73
Q

In a 20-year old college student, where it is more likely to find the DNA sequence encoding the genes driving early embryonic development?

A

heterochromatic region

74
Q

The 100 gametes below were collected from an individual with genotype AB/ab:
30 AB
32 ab
21 Ab
17 aB
How many may units separate these two genes?

A

38

75
Q

Which of the following syndromes is not paired with its causative chromosomal aberration?

A

Fragile X syndrome - deletion

76
Q

Which are present in the highest numbers in the human genome?

A

SNPs

77
Q

Which of the following best describes the inheritance pattern of VNTRs?

A

VNTRs exhibit codominance

78
Q

Which of the following bacterial conjugations would produce a stable partial diploid?

A

F’ x F-

79
Q

Which of the following statements best describes a Euchromatic region of DNA?

A

A chromosome region with less chromatin compaction, many actively expressed genes, and lightly stained regions of G-banded chromosomes?

80
Q

Which of the following is true of the partial diploid cell below
IsP+OcZ-Y+ / I-P+O+Z-Y+

A

Beta-galactosidase would be uninducible and permease would be contitutively expressed

81
Q

Which transposable element in bacteria lacks insertion sequences?

A

Non-composite transposons

82
Q

It has been observed that diseases caused by repeat expansions are the result of trinucleotide repeats rather than smaller or larger repeat lengths. If NON-trinucleotide repeat expansions were present in the coding region of a gene, which type of mutation would you expect to be the most likely?

A

frameshift

83
Q

Which of the following occurs as a result of an abundance of tryptophan in E. coli?

A

The 5 trp genes (TrpA - TrpE) are not transcribed

84
Q

Ataxia telangiectasia is a human inherited disorder characterized by poor coordination, red marks on the face, increased sensitivity to X-rays and other radiation, and an increased susceptibility to cancer. Recent studies have shown that this disorder occurs as a result of a mutation of the ATM gene. ATM is protein kinase that is activated in response to DNA damage and then activates other proteins that cause cell cycle arrest and/or apoptosis. Which of the following explains why DNA repair mechanisms cannot correct this problem.

A

A loss of ATM function cannot be overcome by the action of DNA repair pathways because cells enter S-phase before there is enough time for DNA repair

85
Q

What type of damage results in an apurinic site?

A

Breaking the covalent bond at the 1’ carbon of deoxyribose in a purine

86
Q

What wavelength do we expect the maximum absorbance for a pure sample of DNA?

A

260

87
Q

The CAP binding site in the lac promoter is the location of positive regulation of gene expression for the operon. How does the binding exert a positive effect?

A

The CAP-cAMP complex alters the structure of the promoter and allows RNA polymerase to bind to it

88
Q

The purpose of the Ames Test is to _____________.

A

test the mutagenic effects of chemicals

89
Q

Two different mutations are identified in a haploid strain of yeast:
The first prevents the synthesis of adenine by a nonsense mutation of the ade- 1 gene. In this mutation, a base-pair substitution changes a tryptophan codon (UGG) to a stop codon (UGA). The second affects one of several duplicate tRNA genes. This base-pair substitution mutation changes the anticodon sequence of a tRNA Trp from 3’ -ACC- 5’ to 3’ -ACU- 5’. What term would best be used to describe the second mutation?

A

suppressor mutation

90
Q

Generally speaking, which of the following mutations would most severely affect the protein coded for by a gene?

A

a frameshift deletion (2 bases) at the beginning of the gene

91
Q

What would happen to the expression of the lac operon a bacterial cell if you mutated the enzyme adenylate cyclase in a way that caused it to make cAMP constitutively?

A

The lactose operon would be expressed at high levels in response to lactose in the presence and/or absence of glucose

92
Q

Which of the following spontaneous mutations alters DNA structure/sequence and generally results from strand slippage?

A

Expansion of trinucleotide repeat sequences

93
Q

In mismatch repair in E. coli. The MutH/L/S system uses nearby 5’-GATC-3’ sequences. Which of the following modifications is common on this sequence?

A

Methylation on the Adenine

94
Q

Which of the following conditions would induce the lytic cycle in Lambda phage infected E. coli cells?

A

Mutating the N protein in a way that prevents its binding to DNA

95
Q

Which of the following features of the trp operon is likely least essential to the process of attenuation?

A

The order of the structural genes E,D, C, B, A

96
Q

What mRNA is expressed at elevated growth temperatures, leading to transcription of heat shock genes?

A

sigma70

97
Q

Which of the following statements regarding Nucleotide Excision Repair (NER) and Base Excision Repair (BER) is TRUE?

A

Both NER and BER involve the removal of one or more damaged bases by a nuclease

98
Q

In the bacterial transformation lab, which of the following is most directly responsible for allowing bacteria to grow in the presence of ampicillin?

A

bla gene

99
Q

Which type of DNA damage is repaired by the enzyme photolyase?

A

thymine dimers

100
Q

____________ is an inhibitor of apoptosis in healthy cells that can be directly inhibited by ____________ in cells with DNA damage.

A

BCL2, BAX

101
Q

If the UGG codons in Region 1 of trpL were changed to AGG codons, what effect would this have on expression of the trp operon?

A

The operon would be regulated by arginine levels; high levels of arginine would attenuate expression of trp genes.

102
Q

Which of the following is a consequence of mutational inactivation of both p53 alleles in a cell?

A

Reduction of p21 synthesis

103
Q

Translation of the thiMD operon genes in E. coli occurs when ____________.

A

low TPP leads to the formation of a Shine-Delgarno antisequestor stem loop

104
Q

To use RFLP analysis to detect a SNP, the SNP must ____________.

A

occur within a restriction enzyme recognition sequence

105
Q

State the two names of Double-stranded Break Repair discussed and provide the names of at least one protein involved in this process.

A

Nonhomologous End Joining - Ku70, Ku80
Homology Directed Repair - Rad51