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Biology for the MCAT :) > Genetics > Flashcards

Genetics Flashcards

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1
Q

Mutation

A

Change of the structure of a gene

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2
Q

Random Mutation

A

Just happens

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3
Q

Translational Error

A

RNA —> Amino acid (protein) sequence

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4
Q

Transcriptional Error

A

DNA —> mRNA

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5
Q

Point Mutation (Base Substitution)

A

Change a Nucleotide (A, T, C, G)

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6
Q

Silent Mutation

A

Cannot tell there is a mutation

Ex: Mutation on the intron is silent b/c this does not create a protein

Ex: Mutation in the wobble position (3rd base in codon) that still codes for the same amino acid

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7
Q

Exon

A

Exits the nucleus

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8
Q

Intron

A

Cut out and gets digested; remains in the nucleus (junk)

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9
Q

Missense Mutation

A
  • Codon is change to code for a different amino acid

- “miss one part” = wrong nucleotide put in

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10
Q

Nonsense Mutation

A

Premature stop codon

  • UGA
  • UAG
  • UAA
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11
Q

Start Codon

A

Methionine (AUG)

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12
Q

Inversion Mutation

A

Flip nucleotide sequence (reversed)

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13
Q

Addition Mutation

A
  • Add in nucleotides

- The # inserted impacts what you see and the overall type of mutation

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14
Q

Deletion Mutation

A
  • Delete nucleotides

- The # inserted impacts what you see and the overall type of mutation

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15
Q

Translocation Mutation

A
  • Nucleotides (gene) is cut out and moved to a different location
  • This is what Viruses do to incorporate their DNA into host DNA
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16
Q

Central Dogma of Biology

A

DNA ———————> RNA ——————> Protein
Transcription Translation

DNA = Nucleotides (T, A, C, G)
RNA = Nucleotides (U, A, C, G)
Protein = Amino Acids
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17
Q

Mispairing Mutation

A

Wrong base pair; meaning wrong base was copied and they do not match

Ex: A-C, T-G, G-A, etc…

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18
Q

Advantageous Mutation

A

Mutation that benefits the species; increasing likelihood of survival (passed to the next generation)

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19
Q

Deleterious Mutation

A

Harmful mutation to the organism; can be fatal or lethal

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20
Q

Inborn Errors of Metabolism

A

Genet disorder that prevents or changes a person’s ability to metabolize (breakdown food and function)

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21
Q

Carcinogen

A

Cancer causing mutation

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22
Q

Mutagen

A

Anything that causes a mutation

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23
Q

Evolution

A

Organism / species slowly evolve and change genetically over time; often due to external factors that select for one trait over another

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24
Q

Natural Selection

A

Nature selects the most “ideal” genetic organism to survive

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25
Q

Fitness

A
  • Ability to reproduce and those offspring are able to survive, mature and reproduce as well
  • Ability to pass on genes to the next generation
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26
Q

Group Fitness

A

Entire group works together to survive

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27
Q

Speciation

A

Organisms of the same species evolve into separate species (can no longer reproduce to create viable offspring who can also reproduce)

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28
Q

Polymorphism

A

Different variations / versions of traits

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29
Q

Adaptation

A

Mutation to survive in a new environment

30
Q

Specialization

A

Specific adaptation to one part of an environment (niche) to suit a particular way of life or skill

31
Q

Inbreeding

A

Mating with relatives or family

32
Q

Outbreeding

A

Mating outside of the family (more diverse selection of genes)

33
Q

Bottleneck

A

A large population that was mostly wiped out

34
Q

Genetic Regression

A

Species that start over (ex: bottleneck) to become more diverse

35
Q

Evolutionary Time (Molecular Clock)

A

Measured by gradual, random changes in the genome

36
Q

Genotype

A

Genes (not always shown) that you carry

37
Q

Phenotype

A

What you see; the physical traits that are a result of your genotype

38
Q

Gene

A

Codes for a gene produce, generally a protein that determines a characteristic or trait

39
Q

Chromosome

A

A threadlike structure of nucleic acids and protein found in the nucleus of most living cells, carrying genetic information in the form of genes

  • 24 types found in humans (22 pairs are autosomal and 2 sex chromosomes (x and y))
  • 46 in somatic cells
  • 23 in germ cells
40
Q

Homologous (homologs)

A

Same type of chromosomes but from different parents that can code for different alleles

41
Q

Alleles

A

Different versions of the same gene

42
Q

Locus

A

Specific location on a gene

43
Q

Homozygous

A

Same alleles / genes from both parents

44
Q

Heterozygous

A

Two different alleles / genes for the same trait

45
Q

Wild Type

A

Common dominant gene; typical trait found in nature

46
Q

Dominant

A

Gene that is expressed (allele is seen)

47
Q

Recessive

A

Gene that is hidden or masked (allele not seen)

48
Q

Codominance

A

Both alleles are equally dominant

Ex: Blood type

49
Q

Leakage

A

Interbreeding between species results in a viable offspring; Genes therefore “leak out” into a new species

50
Q

Penetrance

A

Percent of a gene that is expressed in the population or how much “penetrates” the population

51
Q

Expressivity

A

Degree to which an allele is expressed

52
Q

Hybridization

A

Mixing species (interbreeding) to increase fitness with new traits

53
Q

Gene Pool

A

All alleles in a population (master list for a species)

54
Q

Independent Assortment

- (Mendel)

A

Alleles do not depend on each other to separate; alleles are independent from one another

55
Q

Monohybrid Cross

A

Phenotype = 3 dominant : 1 Recessive

56
Q

Dihybrid Cross

A

Phenotype:

  • 9 Homozygous Dominant
  • 3 Heterozygous Dominant in trait A
  • 3 Heterozygous Dominant in trait B
  • 1 Homozygous Recessive
57
Q

Trihybrid Cross

A

Phenotype ratio = 27: 9: 9: 9: 3: 3: 3: 1

58
Q

Linkage

A

Connected genes (on the same chromosome) - unless crossing over occurs which would separate them, they are passed on together

*The closer the genes the higher the probability that they will be passed on together (less likely to separate)

59
Q

Synaptonemal Complex

A

A protein that holds onto the tetrad and assists in the crossing over (protects it)

60
Q

Tetrad

A

Set of 4 chromosomes (2 homologous pairs) come together

61
Q

Nondisjunction

A

Chromosome do not separate correctly

Ex: Trisomy 21 leads to down syndrome

62
Q

Sex Linked Trait

A

Trait on the X or Y chromosome; linked to gender

XX = female
XY = male
63
Q

Spermatozoa

A

Creates 4 gamete cells that can be passed on; only contain genetic information

64
Q

Ova

A

Ova + 3 polar bodies

  • Ova passes on nucleus and the entire cell (cytoplasm, mitochondria, organelles, etc…)
65
Q

Genetic Drift

A

Changes in the gene pool, slowly over time due to random chance (external factors, environment, mutations, etc…)

66
Q

Hardy - Weinberg Theory

A

Allele and genotype frequency remain constant in a population generation to generation in the absence of outside factors

67
Q

Hardy - Weinberg Theory Conditions

A
  • Cells must be diploid (2n) - 2 parents
  • Population reproduces sexually
  • Random Mating
  • Infinitely large population (no inbreeding)
  • No migration
  • No mutation / Natural Selection

**Equilibrium is to be maintained

68
Q

Hardy - Weinberg Equations

A

Dominant Alleles = p
Recessive Alleles =q

p + q = 1

___________________________________

Homozygous Dominant Alleles = p
Homozygous Recessive Alleles =q
Heterozygotes = pq

p^2 + 2pq + q^2 = 1

69
Q

Test Cross

A

Cross a parent with a homozygous recessive to determine the genotype

  • if parent is homozygous dominant then the phenotype is 100% dominant and genotype is 100% heterozygotes
  • if parent is heterozygote then the phenotype will be 50% dominant and 50% recessive and the genotype with be 50% heterozygote and 50% homozygous recessive
70
Q

Gene Mapping

A

Methods used to identify the locus (specific location) of a gene and the distances between the genes

  • Looks at % of genes that separate vs % of genes that do not separate
71
Q

Linked Genes

A

Genes connected on the same chromosome

Biology for the MCAT :) (10 decks)

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