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Advanced Patho Test 1 > TEST 1: Genetics > Flashcards

TEST 1: Genetics Flashcards

1
Q

Components of DNA

A

Phosphate
Sugar (deoxyribose)
Base

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2
Q

Structure/function of
Phosphate in DNA

A

-ONE part of the backbone, alternates with deoxyribose
-links individual nucleotides together
-Connects 3’ carbon of one dexoyribose sugar to the 5’ carbon of the next dexoyribose sugar in the strand
-Phosphate group is negatively charged giving DNA an over all negative charge

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3
Q

Structure/function of Deoxyribose in DNA

A

-ONE part of the backbone, alternates with phosphate
-Pentose sugar
-Provides structure and attachment site for nitrogenous bases.

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4
Q

DNA Bases and which is their attachment counter part

A

Adenine A-T
Thymine
Cytosine C-G
Guanine

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5
Q

Structure of DNA vs RNA

A

DNA: double helix, deoxyribose sugar and phosphate backbone, A-T-C-G bases with hydrogen bonds.

RNA: Single stranded, ribose sugar and phosphate backbone, A-U-C-G bases

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6
Q

Function of DNA vs RNA

A

DNA: storage of genetic information and template for RNA.

RNA: transfers genetic information from DNA to ribosomes for protein synthesis (mRNA), carries amino acids during protein synthesis (tRNA), and catalyzes peptide bond formation (rRNA)

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7
Q

Stability of DNA vs RNA

A

DNA: Stable double helix

RNA: Prone to degradation as its single stranded. Presence of ribonucleases that can break down RNA.

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8
Q

Location of DNA vs RNA

A

DNA: Cell nucleus and mitochondria. Remain in nucleus

RNA: Nucleus, cytoplasm, and ribosomes.

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9
Q

Role in protein synthesis DNA vs RNA

A

DNA: template for RNA synthesis (transcription). NOT directly involved in protein synthesis.

RNA: crucial role in protein synthesis. Carries genetic info from DNA to ribosomes and coordinates the translation of genetic code into proteins.

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10
Q

Replication DNA vs RNA (Broad)

A

DNA: duplication of entire double stranded molecule wit high fidelity and accuracy resulting in two identical DNA molecules.

RNA: replication called transcription. Synthesizes a single stranded RNA molecule that is complementary to a specific DNA template, allowing for expression of genetic info and protein synthesis.

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11
Q

DNA Polymerase

A

Main enzyme responsible for catalyzing the addition of nucleotides to the growing DNA strand.

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12
Q

Helicase

A

Enzyme that unwinds and separates the DNA from the helix to expose the template strands for replication

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13
Q

Primase

A

Synthesizes RNA primers that serve as starting points for DNA synthesis.

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14
Q

Ligase

A

Seals the nicks in sugar/phosphate backbone to create a continuous DNA strand

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15
Q

What cellular phase is DNA replicated

A

S phase

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16
Q

What are the 5 steps in DNA replication

A
  1. Helicase unwinds the helix creating a replication fork
  2. Primase synthesizes RNA primers on the template strands
  3. DNA polymerase adds complimentary nucleotides to the exposed template strands in the 5’ to 3’ direction
  4. Leading and lagging strands are synthesized simultaneously, but discontinuous synthesis occurs on the lagging strand, forming Okazaki fragments
  5. DNA ligase joins the Okazaki fragments to create a continuous strand
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17
Q

Meaning of semi-conservative replication

A

where DNA replication where each daughter DNA molecule have both a parental strand and a newly synthesized strand.

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18
Q

RNA plymerase

A

Enzyme that Catalyzes synthesis of RNA using one strand of DNA as a template.

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19
Q

Promoter

A

DNA sequence where RNA polymerase bins to initiate transcription

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20
Q

Terminator

A

Sequence signaling the end of the gene and the completion of transcription.

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21
Q

What are the 4 steps of RNA replication

A
  1. transcription in the nucleus where RNA is synthesized from DNA template
  2. RNA polymerase binds to the promoter sequence on DNA template
  3. Initiates RNA synthesis via complementary base pairing in the 5’ to 3’ direction using (A-U-G-C)
  4. Transcription stops at the terminator sequence and newly synthesized RNA molecule is released.
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22
Q

3 Replication differences in DNA vs RNA

A
  1. RNA is a single strand to a single strand
  2. RNA polymerase does not require a primer to initiate synthesis (DNA polymerase does)
  3. RNA synthesis is less accurate as it is less controlled.
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23
Q

What is a codon

A

sequence of 3 nucleotides that encode a specific amino acid or signal the start or stop of protein synthesis

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24
Q

What is the role of the codon

A

to correspond to a specific amino acid allowing the mRNA to be read and translated into a protein
aka specificity, like bookmark

25
Q

What is the start codon

A

AUG methionine serves as start for protein synthesis

26
Q

What are the 3 stop codons

A

UAA
UAG
UGA

27
Q

What is an anticodon

A

complementary three nucleotide sequence on tRNA that bind to the corresponding codons on mRNA during translation

28
Q

What is the role of the anticodon

A

pair with codons on mRNA to facilitate accurate insertion of amino acids into a growing peptide chain. Fidelity.

29
Q

What is wobble base pairing

A

due to degeneracy in the genetic code, some tRNAs can recognize multiple codons due to nonstandard base pairing at the third position of the codon, the wobble base pair.

30
Q

3 phases of TRANSCRIPTION

A
  1. Initiation: RNA binds to promoter of DNA
  2. Elongation: RNA polymerase synthesizes complementary RNA from DNA template
  3. Termination: transcription ends when RNA polymerase reaches stop sequence and releases the mRNA strand.
31
Q

What is an Exon

A

coding sequence on mRNA

32
Q

What is an Intron

A

non coding sequence on mRNA

33
Q

What 3 processes take place after
mRNA transcription to convert it from pre-mRNA to mRNA in preparation for translation

A
  1. 5’ capping- addition of 7-methylguanosine at 5’ end and
  2. 3’ polyphenylation - addition of poly A tail to 3’ end
  3. mRNA splicing- removal of introns and joining of exons
34
Q

What is phase 1 of the 3 phases of TRANSLATION of RNA

A

Initiation:
-ribosomal subunit binds to mRNA at AUG (start)
- tRNA methionine (tRNAiMet) binds to AUG in p-site of ribosome
-large ribosomal subunit joins and ribosome is ready for translation

35
Q

What is phase 2 of the 3 phases of TRANSLATION

A

Elongation:
-codon recognition: tRNA with anticodon binds to mRNA at A-site of ribosome

-peptide bond formation: amino acid carried by the tRNA, in the A-site forms a peptide bond with the growing polypeptide chain on the tRNA in the P-site

-Translocation: ribosome translocates along the mRNA moving tRNA and mRNA by one codon. empty tRNA exits ribosome and new tRNA enter the A-site

36
Q

What is phase 3 of the 3 phases of TRANSLATION

A

Termination:
-release factors recognize stop codon and polypeptide chain detaches from the ribosome
-the ribosome disassembles releasing mRNA and the newly synthesized protein

37
Q

What is a histone protein

A

structural protein that help package and condense DNA into compact structure within the chromosome

38
Q

What is a non-histone protein

A

interact with DNA and histones to regulate gene expression, DNA replication, repair and chromosome organization

39
Q

What is the centromere

A

central region of a chromosome where sister chromatids are joined and spindle fibers attach during cell division

40
Q

What are telomeres

A

protective caps at the ends of chromosomes that help maintain chromosomal stability and prevent DNA degradation during replication

41
Q

What are chromatids

A

Identical copies of chromosomes produced during DNA replication. They separate during cell division to ensure accurate distribution of genetic material

42
Q

What is a genetic mutation

A

alterations in the DNA sequence that can lead to changes in gene function or the structure of gene products (proteins)

43
Q

What is deletion

A

Loss of genetic material

Associated with cystic fibrosis

44
Q

what is duplication

A

extra copies of genetic material

45
Q

what is Insertion

A

addition of extra genetic material

46
Q

what is substitutions

A

exchange of one nucleotide for another in DNA sequence

Ex: sickle cell disease due to a point mutation

47
Q

Allele

A

variant form of a gene

-offspring inherit one allele from each parent

48
Q

Heterozygous

A

passing two different alleles for a particular gene

49
Q

Homozygous

A

having two identical alleles (from both parents) for a particular gene

50
Q

Penetrance

A

the percentage of individuals carrying a specific genetic mutation who develop the associated phenotype

51
Q

Phenotype

A

observable traits or characteristics by genotype

ex. down syndrom

52
Q

Expressivity

A

the degree to which a genetic trait is expressed (varying degrees of phenotype manifestation)

53
Q

risk of recurrence

A

probability that offspring will inherit a genetic disorder with each pregnancy and the same set of parents

54
Q

Dominant inheritance

A

only one copy of the mutant allele is required for the trait to be expressed.

ex. polycystic kidney disease and HUNTINGTON’s disease

55
Q

Recessive inheritance

A

both copies of the allele must be mutated for the trait to be expressed

ex. sickle cell anemia and cystic fibrosis

56
Q

x-linked recessive inheritance

A

traits linked to x chromosome show a recessive pattern. the alleles in females may be carriers but clinically manifest in male offspring

ex: DUCHENE’S MUSCULAR DYSTROPHY, COLOR BLINDINESS, HEMOPHILIA A

57
Q

Monohybrid cross

A

crossing two heterozygous parents for a single trait (Aa x Aa)

58
Q

Dihybrid cross

A

crossing two parents heterozygous for two traits (AaBb x AaBb)

Advanced Patho Test 1 (20 decks)

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