Mutations and Evolution Flashcards

1
Q

Gene and chromosomal mutations can result from

A
  • Errors in DNA replication
  • Errors in Cell Division
  • Mutagens
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2
Q

Describe errors in DNA replication

A
  • During DNA Replication errors can occur resulting in wrong DNA being made this is caused by
    1. Substituition - wrong base pairs lining up
    2. Deletions - bases can be deleted
    3. Insertion - duplicated or extra DNA can be added
    4. Frameshifts - Incomplete DNA code - DNA is unreadable
  • these erros can be passed onto new cells (gline or somatic)
  • Cancer, cystic fibrosis, sickle cell anaemia
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3
Q

Describe Errors in Cell division

A
  • Occur during Meiosis
  • Majority of which occuring during the first stage of Meiosis especially when:
  • Homologous chromosomes lineup
  • crossing over
  • during these, sections can be put in the wrong order, or added to the wrong chromosomes
  • whole chromosomes can also be added or deleted
  • the gametes produced have either faulty chromosomes or an incorrect number of chromosomes
  • Down syndrome, Turners Syndromem
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4
Q

Describe Mutagens

A
  • Mutagens are agents that are known to increase the likelyhood of mutations - known mutagens are mustard gas, radiation
  • Mutages cause mutations as they:
  • Resemble proteins and become incorporated into DNA
  • Triggfer DNA replication errors
  • Cause DNA to break
  • Block DNA replication or damage structure
  • Cells affected by mutagens will replicate with damaged DNA
  • Can cause somatic, germline, gene & chromosomal mutations
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5
Q

Describe the changes in allele frequency caused by mutations

A
  • Mutations refers to a change that occurs in our DNA sequence that leads to a new characterisitc.
  • Mutations can occur in somatic and germline forms, arising from erros in DNA replication, errors in Cell division and Mutagens.
  • Two types: Gene and Chromosomal
  • Mutations can create new more favourable adaptations which can be passed on to the next generations
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6
Q

Describe the changes in allele frequency caused by random genetic drift

A
  • RGD is randon and non selective, occurs due to chance
  • the effect is stronger on smaller populations
  • rare allele has a greater change of becoming more frequent in small populations.
  • Bottleneck: drastic reduction in population, surviving individuals breed, thus, alleles are passed on
  • Founder effect: Small group migrates establishing new community, the new founding community has different characterisitics that are not typical of the original populations
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7
Q

Describe changes in allele frequency caused bt gne flow betweening adjoining groups

A

Barries to gene flow influence the allele frequency
Geographical barriers alike deserts, mountains, oceann
sociocultural barriers include religion, language and culture

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8
Q

Genetic diseases in particular populations illustrates the effects of different factors on the dynamics of gene pools. (Tay Sachs)

A

Tay-Sachs
* Carrier are resistant to tuberculosis
* population: Ashkenazi Jew
* Cause: Missing enzyme essential for fat metabolism
* Symptons: build up of fatty substances, mental and physical disabilities.
* inheritance: recessive trait/passed from two carrier parrents
* Effect on Gene Pool:
* Carrier couples choose not to reproduce
* heterozygous individuals are resisitant to tuberculosis

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9
Q

Natural selection occurs when factors in the environment confer a selective advantage on specific phenotypes to enhance survival and reproduction. What are these factors in the environment

A

Variation
Struggle
Selection

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10
Q

describe inherited variation

A

Inherited variation refers to the genetic differences passed down from one generation to the next. large gene pool with a variety of genes creates variation. Variation must be present in individuals

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11
Q

describe struggle for existence

A

There is an overproduction of offspring with limited resources. There is an evident selection pressure with a competition for the limited resourses, creating the struggle to survive

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12
Q

describe isolation and differential selection

A

Differential selection: Individuals that have a particular phenotype that is suited for the environment survived and passes on favoured genes to offspring. Over time desirable phenotypes will be more prevalent and can lead to speciation.

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13
Q

Explain how those mechanisms produce significant changes to gene pools to an extent that speciation occurs

A

Speciation occurs when a combination of variation, isolation, struggle and selection are present.
Variation - wide variety of genes
Isolation - barriers to gene flow
Struggle - Overproduction of offspring with limited resources
Selection : individuals with suitable genes survive, passing it onto next generation.
Speciation: A new species forms when they are no longer able to reproduce with others

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14
Q

vGenetic diseases in particular populations illustrates the effects of different factors on the dynamics of gene pools. (SICKLE CELL)

A
  • Population : african/italian/indian
  • Cause: muation of gene responsible for RBC
  • Symptoms: RBC have sickle-shape, reduces SA of RBC
  • Inheritance: recessive trait
  • Effect on gene pool
  • individuals homozygous for condition usually die early
  • heterozygous have sickle cell trait
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15
Q

Genetic diseases in particular populations illustrates the effects of different factors on the dynamics of gene pools. (Thalassemia)

A
  • Population: Mediteranian sea/greek/italian
  • Cause: mutation of gene responsible for RBC. Haemoglobin production
  • Symptoms: Defects in formation of haemoglobin. Fewer functioning RBC
  • Inheritance: Recessive trait
  • Effects on gene pool:
  • more mutations in RBC formation increases severity of disease
  • individuals affected with mild thalassemia only have 1-2 mutations
  • more mutations = higher mortality rate
  • resitant to malaria
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16
Q

Gene mutations

A

Gene mutation:
* a change to a sinlge gene loci, occuring during DNA replications
* Changes to nucleotides:
* Subsitution: silent (no effect), missence (little), nonsense (proteins wont be made)
* Insertion : results in a frame shift
* Deletion (framshift)
* Albinism

17
Q

Chromosomal Mutations

A
  • Changes occur to all or part of a chromosome
  • can cause severe deformity
  • Insertion: extra base pairs added
  • Duplication: section of DNA is replication
  • Deletion: dna is lost of removed
  • Translocations: one segment attaches to another chormosome
  • Inversions: broken segment is reversed and reinserted into a chromosome
  • Non-disjunction - Chromosome is missing
  • Down syndrome
18
Q

Describe the extreme condition of the arctic

A
  • Extremely cold temperatures
  • Long winters and short summers
  • Little vegetations
  • strong winds, icy terrain
19
Q

How did the extreme conditions create selective pressures that influence the body shape of eskimos

A
  • short limbs, long body - higher sa
  • increased body fat for insulation - serves as an energy reserve and insulation in extreme cold
  • sturdy and muscular physique - better hunters and gatherers
  • shorter stature - reduced risk of injuries from falling from icy terrain
20
Q

How has natural selection shaped other human populations

A

Altitude adaptations: Himalayans - developed physiological adaptations to cope with low oxygen levels, incuding increased lung capacity, higher rbc production and alterations on haemoglobin
Malaria resistance: Africa - developed sickle cell trait provides resistance to malaria