dna & genom Flashcards

(43 cards)

1
Q

What are the components of a nucleotide?

A

Pentose Sugar (5 carbons), Phosphate Group, Nitrogenous base attached to carbon 1

Nucleotides are the building blocks of nucleic acids like DNA and RNA.

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2
Q

Define nucleoside.

A

Pentose sugar + nitrogenous base

Nucleosides do not contain a phosphate group.

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3
Q

What is the difference between a nucleoside and a nucleotide?

A

Nucleoside + phosphate = nucleotide

Nucleotides are essential for the formation of DNA and RNA.

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4
Q

What forms the sugar-phosphate backbone in polynucleotides?

A

Phosphodiester bonds between nucleotides

This backbone is crucial for the structural integrity of nucleic acids.

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5
Q

Describe the structure of DNA.

A

Double helix, phosphodiester bonds, complementary base pairing, hydrogen bonds, antiparallel orientation

DNA’s structure is key to its function in genetics.

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6
Q

What evidence supports the antiparallel strands of DNA?

A

One strand runs 5’ to 3’ while the other runs 3’ to 5’

This orientation is critical for DNA replication and function.

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7
Q

What is the structure of RNA?

A

Polyribonucleotide, same phosphodiester bond, uracil instead of thymine, usually single-stranded

RNA plays several roles in gene expression and regulation.

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8
Q

How does the organization of DNA differ in prokaryotes and eukaryotes?

A

Eukaryotic genome: larger, multiple, linear, found in nucleus; Prokaryotic genome: smaller, single, circular, found in nucleoid

This structural difference impacts gene regulation and expression.

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9
Q

What evidence supports semi-conservative DNA replication?

A

Generation 0: only heavy 15N-15N DNA; Generation 1: hybrid DNA; Generation 2: 50% hybrid, 50% light DNA

This experiment demonstrated how DNA strands are conserved during replication.

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10
Q

Explain the process of DNA replication.

A

Involves polymerization of free deoxyribonucleoside triphosphates during the S phase

DNA replication is crucial for cell division and genetic continuity.

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11
Q

What role does helicase play in DNA replication?

A

Binds and unzips DNA by breaking hydrogen bonds

This is essential for separating the DNA strands for replication.

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12
Q

How does DNA polymerase function during replication?

A

Catalyzes formation of phosphodiester bonds linking DNA nucleotides, synthesizes in 5’ to 3’ direction

Its activity is critical for the accuracy of DNA replication.

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13
Q

What are Okazaki fragments?

A

Discontinuous segments synthesized on the lagging strand

These fragments are later joined by DNA ligase.

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14
Q

What is the Central Dogma of molecular biology?

A

Flow of genetic information: Replication → Transcription → Translation

This framework explains how genetic information is expressed.

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15
Q

List the six key features of the genetic code.

A
  • Triplet Code
  • Universal Code
  • Degenerate
  • Non-overlapping
  • Continuous
  • Includes start and stop sequences

These features ensure efficient and accurate protein synthesis.

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16
Q

Why is the genetic code considered a triplet code?

A

3 nucleotides allow for 64 codons, enough to encode 20 amino acids

This redundancy helps protect against mutations.

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17
Q

What are the main components of a gene?

A
  • Promoter
  • Coding Region
  • Start Codon
  • Stop Codon
  • Regulatory Elements
  • Terminator

These components are essential for gene regulation and expression.

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18
Q

Summarize the transcription process.

A
  • Initiation: RNA polymerase binds to promoter
  • Elongation: RNA synthesis by adding nucleotides
  • Termination: Stops at terminator sequence
  • Product: pre-mRNA or mRNA

Transcription is the first step in gene expression.

19
Q

What is the role of RNA polymerase in transcription?

A

Synthesizes RNA from the DNA template strand

It is the key enzyme in the transcription process.

20
Q

Describe the structure of mRNA.

A

Single-stranded, contains codons, has a 5’ cap and 3’ poly-A tail

These features enhance stability and translation efficiency.

21
Q

How does tRNA function in protein synthesis?

A

Carries specific amino acids and has anticodons that pair with mRNA codons

This ensures the correct amino acids are added to the growing polypeptide chain.

22
Q

What is the primary function of rRNA?

A

Major component of ribosomes, catalyzes protein synthesis

rRNA provides structural support in the ribosome.

23
Q

What is amino acid activation?

A

Enzyme activation, ATP hydrolysis, attachment to tRNA

This process is crucial for preparing amino acids for protein synthesis.

24
Q

What is amino acid activation?

A

Specific amino acid covalently attached to 3’ CCA stem of a specific tRNA with a specific anticodon by a specific aminoacyl-tRNA synthetase; ATP is required, resulting in aminoacyl tRNA

This process ensures that the correct amino acid is delivered for protein synthesis.

25
What is the significance of amino acid activation?
Enzyme can achieve double specificity, where correct amino acid is attached to tRNA with corresponding anticodon ## Footnote This is crucial for accurate protein synthesis.
26
Describe the process of translation initiation.
Translation initiation factors help bind small ribosomal subunit and initiator tRNA carrying methionine to mRNA; Anticodon of initiator tRNA base pairs with start codon (AUG); Large ribosomal subunit binds to form translational initiation complex ## Footnote This sets the stage for the elongation phase of translation.
27
What happens during the elongation phase of translation?
A) Second aminoacyl-tRNA binds at A site; B) Peptide bond forms between adjacent amino acids; C) Ribosome translocates, shifting tRNA to Exit site ## Footnote The process continues until a stop codon is reached.
28
What triggers termination in the translation process?
Termination occurs when stop codon (UAA/UAG/UGA) reaches A site; Release factors hydrolyse covalent bonds between polypeptide and tRNA ## Footnote This releases the polypeptide and disassembles the ribosome.
29
True or False: Simultaneous transcription and translation only occur in prokaryotes.
True ## Footnote This is due to the absence of a nucleus in prokaryotes, allowing both processes to occur concurrently.
30
Define gene mutation.
An alteration in the sequence of nucleotide bases in DNA of a gene, which may change the sequence of amino acids in a polypeptide chain ## Footnote Mutations can lead to various effects on protein function.
31
What is a frameshift mutation?
Caused by insertion or deletion of nucleotides not divisible by 3, disrupts reading frame and results in non-functional polypeptide ## Footnote This alters the entire downstream sequence of amino acids.
32
What is a silent mutation?
Point mutation with no change in amino acid sequence due to degeneracy of genetic code ## Footnote Different codons can code for the same amino acid.
33
What is a missense mutation?
Point mutation where codon codes for a different amino acid; can be conservative or non-conservative ## Footnote This can affect protein function depending on the properties of the substituted amino acid.
34
What is a nonsense mutation?
Point mutation that results in a premature stop codon (UAG, UAA, UGA), truncating the polypeptide ## Footnote This typically leads to a non-functional protein.
35
What type of mutation occurs in the HBB gene in sickle cell anemia?
Point mutation (GAG → GTG) ## Footnote This mutation occurs at codon 6 of the HBB gene on chromosome 11.
36
What amino acid substitution occurs due to the mutation in sickle cell anemia?
Glutamic acid replaced by valine ## Footnote Glutamic acid is polar, whereas valine is nonpolar.
37
How does the mutation affect the solubility of hemoglobin in sickle cell anemia?
Hemoglobin (HbS) becomes less soluble ## Footnote This leads to polymerization under low oxygen conditions.
38
What structural change occurs in red blood cells due to sickle cell anemia?
Red blood cells become rigid and crescent-shaped ## Footnote These are known as sickle cells.
39
What are potential causes of chromosomal aberrations related to gene mutations?
* Replication errors * DNA repair failure * Spindle fiber issues ## Footnote Each of these can lead to breaks, misalignments, or aneuploidy.
40
What are the types of structural aberrations that can result from gene mutations?
* Deletions * Duplications * Inversions * Translocations ## Footnote These involve changes in chromosome segments.
41
What are numerical aberrations and how are they caused?
Nondisjunction due to gene mutations ## Footnote This can lead to extra or missing chromosomes, such as in Down syndrome (trisomy 21).
42
True or False: Mutations in helicase genes can lead to chromosomal breaks.
True ## Footnote These replication errors can significantly impact chromosome integrity.
43
Fill in the blank: The mutation in sickle cell anemia occurs at codon _______ of the HBB gene.
6 ## Footnote This specific location is critical for the mutation's effects on hemoglobin.