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Human Biology Year 12 > Unit 4 - Human Biology > Flashcards

Unit 4 - Human Biology Flashcards

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1
Q

Gene Pool

A

All alleles within an interbreeding population

  • Large gene pool indicates high amounts of genetic diversity, decreasing chance of extinction
  • Small gene pool indicates low amounts or genetic diversity, increasing chance of extinction
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2
Q

Population

A

All members of a species living in an area at one time

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3
Q

Allele Frequency

A

How many copies of each of each allele are in that population - usually a percentage value

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4
Q

Changes to Allele Frequency

A

Genetic drift (random)
Mutation
Gene flow
Natural selection

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5
Q

Gene Flow

A

Occurs when member/s of one population move to another and reproduce

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6
Q

Barriers to Gene Flow

A

Geographical - individuals must be able to physically interact in order to reproduce
Sociocultural - restrictions to reproduction due to sociocultural differences such as: religion, not speaking the same language, ethnicity

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7
Q

Genetic Drift (Random)

A

Changes to alleles in population due to chance or small population size
Less effect on larger populations
Includes Founder Effect and Bottleneck Effect

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8
Q

Founder Effect

A

Small group leaves population and forms new population in uninhabited location
Small gene pool
Will have new gene frequency that can be compared to mother population

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9
Q

Bottleneck Effect

A

Large portion of population is removed
Due to chance catastrophic event
Can result in recovery or extinction

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10
Q

Mutations

A

Errors in gene replication or mitosis that introduce new alleles
Most are detrimental; it’s rare for one to stay in population
Can be caused by errors in internal processes or mutagens

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11
Q

Natural Selection

A

Some genotypes produce phenotypes that convey selective advantages or disadvantages
Alleles that make up advantageous genotypes will become more common, vice versa

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12
Q

Types of Mutations

A 
Somatic Mutations (body cells)
Germline Mutations (sperm/egg cells)
Gene or Chromosome mutations
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13
Q

Somatic Mutations

A

Only affect individual

no impact on the gene pool

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14
Q

Germline Mutations

A

Affect the gene pool if mutated cells form offspring

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15
Q

What do mutagens do?

A

Mutagens can:

  • trigger DNA replication errors
  • break up DNA
  • Lengthen DNA
  • Block DNA replication
  • Damage DNA structure
  • Chemically react with DNA to modify it
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16
Q

Examples of Mutagens

A 
Ionising radiation (X-rays, Gamma rays, UV rays)
Mustard gas
Formaldehyde
Sulfur dioxide
Some antibiotics
17
Q

Gene Mutations

A

Deletion
Insertion
Substitution
Point mutation

18
Q

Deletion (gene)

A

one or more bases are deleted

19
Q

Insertion (gene)

A

One or more bases are added

20
Q

Substitution (gene)

A

One or more bases are swapped out for another base

21
Q

Point mutation

A

Deletion/Insertion or substitution but only affects one base

22
Q

Frameshift Mutations

A

Deletion or insertion affects every codon after it

more likely to create a significant effect

23
Q

Chromosomal Mutations

A 
Duplication/insertion
Deletion
Inversion
Translocation
Non-disjunction
24
Q

Duplication/insertion (chromosomal)

A

Section of chromosome is doubled up

25
Q

Deletion

A

Section of chromosome is missing

26
Q

Inversion

A

Part of the chromosome is out of order

27
Q

Translocation

A

Part of one chromosome is attached to different chromosome

28
Q

Non-disjunction

A

One extra or one missing chromosome

29
Q

Missense Mutation

A

Amino acids have changed, protein looks and functions differently

30
Q

Nonsense Mutation

A

“stop” code inserted

Protein is either very short or not produced

31
Q

Neutral Mutation

A

Change to amino acid but function unaffected

Protein looks different but acts the same

32
Q

Silent Mutation

A

No change

Protein appears and functions the same way

Human Biology Year 12 (2 decks)

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