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Human Genomics > Module 1 > Flashcards

Module 1 Flashcards

1
Q

Genome

A

Complete DNA set of an organism; all the genetic material belonging to an organism

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2
Q

Genotype

A

The code in the DNA that determines the phenotype

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3
Q

Phenotype

A

The trait that can be observed and measured

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4
Q

Gene

A

A segment of DNA that codes for a protein

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5
Q

Allele

A

Gene variants

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6
Q

Mutation

A

The process that results in different alleles

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7
Q

Chromosomes

A

Tightly packaged DNA. 46 total in each somatic cell

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8
Q

Autosomes

A

22 pairs that do not differ between sexes

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9
Q

Sex chromosomes

A

X, Y

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10
Q

Genetics

A

The study of inherited traits and variations

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11
Q

Nucleotide

A

Contains a nitrogenous base, 5-carbon sugar, phosphate group

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12
Q

Polynucleotide

A

String of nucleotides

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13
Q

Purines

A

2 rings, A/G

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14
Q

Pyrimidines

A

1 ring, T/C

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15
Q

Watson and Crick

A

Determined structure of DNA

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16
Q

Chargaff’s rules

A

In any organism the amount of A=T and G=C

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17
Q

Complementary base pairs

A

When 2 nucleotides are H bonded together

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18
Q

A bonds to…

A

T

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19
Q

C bonds to…

A

G

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20
Q

Phosphodiester bond

A

Bond that links the 5’ end to the 3’ end

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21
Q

Enzymes

A

Proteins that catalyze chemical reactions

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22
Q

Helicase

A

Separates DNA strands to form a replication fork

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23
Q

DNA Polymerase

A

Adds nucleotides to 3’ end of the new strand

24
Q

Primase

A

Makes short stretch of RNA complimentary to the DNA

25
Q

Lagging strand

A

Discontinuous, away from the fork

26
Q

Leading

A

Continuous, toward the fork

27
Q

Ligase

A

Seals gaps between fragments

28
Q

Central dogma

A

Pathway from gene to protein: transcription, translation, DNA to RNA to protein

29
Q

Uracil

A

Instead of thymine in RNA

30
Q

Transcription

A

Process that makes RNA

31
Q

Initiation

A

RNA polymerase binds to promoter to unwind

32
Q

Elongation

A

RNA nucleotides are added to the chain

33
Q

Termination

A

RNA polymerase reaches a terminator sequence and detaches

34
Q

Transcription factors

A

Proteins that turn on transcription

35
Q

Introns

A

Interrupting sequences

36
Q

Exons

A

Coding regions

37
Q

Cap

A

Added to 5’ end

38
Q

Poly-A tail

A

Added to 3’ end

39
Q

RNA splicing

A

removal of introns and joining exons

40
Q

Alternative splicing

A

Genes mix exons to produce different versions of proteins to increase diversity

41
Q

Amino acid

A

Primary unit of a protein

42
Q

Translation

A

Turns RNA into proteins

43
Q

Redundant

A

Amino acids specified by more than one codon

44
Q

Unambiguous

A

Amino acid only specified by one codon

45
Q

tRNA

A

Molecules that match an amino acid to the corresponding mRNA codon, turning RNA to protein. The key to translation

46
Q

Anticodon

A

allows the tRNA to bind to a mRNA codon

47
Q

Ribosome

A

Translation occurs on the surface

48
Q

MET

A

Initiation codon

49
Q

Gene expression

A

Making a protein from a gene

50
Q

3 Levels of gene regulation

A
  1. DNA packaging and epigenetic mods
  2. transcription factors
  3. protein degradation in translation
51
Q

DNA packaging

A

Limits access to the genes

52
Q

Barr body

A

Inactivated X chromosome

53
Q

Epigenetic marks

A

Modifications made to the DNA or histones that can be proteins or chemical groups

54
Q

Gene family

A

2-10 members

55
Q

Gene superfamily

A

100s of members

Human Genomics (12 decks)

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