Inheritance Flashcards

1
Q

whats a gene mutation

A
  • Biochemical error in the copy of the genome – changes dna sequence
  • Insertions and deletions
  • Can look at dna sequence variation to distinguish species from one another
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2
Q

who introduced the concept of the gene

A

Wilhelm Johannsen
Coined in the 1900s

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3
Q

who gave us an understanding of hereditary and how

A

Gregor Mendel
- People knew offspring resembled parents – no one knew how it worked
- Runs controlled breeding experiments with pea plants – shows blending inheritance

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4
Q

whats an allele and its different kinds

A
  • Allele = one of the different forms of a gene that can exist
  • Homozygote = an individual with an identical pair of alleles for a particular gene (AA or aa)
  • Heterozygote = an individual with a different pair of alleles for a particular gene (Aa)
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5
Q

Mendel’s laws

A
  • Law 1 – the 2 members of a gene pair segregate from each other into sex cells, so that each sex cell carries one half of the pair
  • Law 2 – genes for different traits are inherited independently of one another
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6
Q

whats used to to determine what offspring will look like

A

Punnett squares

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7
Q

explain alleles in the ABO blood system context

A
  • ABO bs Adds a fifth sugar to the chain of 4 sugars on the red blood cell
  • A is dominant to O – produces functional enzyme to put A sugars over the red blood cell, O allele does nothing – leads to type A blood
  • A and B are co dominant – both put their sugars over the blood cell – AB blood
  • O does not have the enzyme to put its sugars everywhere – need two O alleles for type O blood
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8
Q

who is Paul Broca

A
  • Broca’s area – brain location responsible for language
  • Hybridization – biological incompatability
  • Worries about social progress and reproduction between people from different places
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9
Q

who is Francis Galton

A
  • Darwin’s cousin
  • Inheritance – intelectual capabilities of high intelegence should breed
  • Invent IQ tests
  • Twin studies - showed genetic factors play significant role in determining characteristics
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10
Q

why are Humans poor as experimental organisms

A

very long generational time - take a longer time to reproduce

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11
Q

what is destinctive about humans knowledge about genes

A

Know more about the disorders than the normal – genes normally names after the mutation e.g. microcephaly (small brain)

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12
Q

what is Cystic fibrosis

A

mutations in gene disrupts ion movement in cells
- deterministically causitive

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13
Q

what is Crohns disease

A

Inflamative bowel
- >200 genes involved in likehood of developing – probalistically causative not determanistically causative
- Hereditory

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14
Q

2 examples of Atypical variation

A
  • marfan syndrome, achondroplastic dwarfism
  • Achrondroplasia – inability to covert cartilage to bone – bones don’t grow – only know what the gene is doing in this disorder, not its function normally
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15
Q

what is GWAS

A

genome wide association study
- Measures the characteristic youre looking at – does the genetics explain any of the differences in this characteristic

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16
Q

GWAS on height

A
  • Nearly 600 people
  • Only found genetic variation that would account for 5% of observed variation - environment has impact
17
Q

what is Bombay phenotype (ABO blood system)

A

homo recessive = absence of fourth sugar e.g. A allele enzyme - do not express A, B, or H antigens on the surface of their red blood cells – functionally type O blood

18
Q

study done on genes and behaviour

A
  • 4 dimensions of personality:
    Novelty seeking
    Harm avoidance
    Reward dependence
    Persistence
  • Questionaire to >5000 people
  • 1.2 million genetic variants
  • Couldn’t explain the variation on basis of genetics
19
Q

example of genetics and metal health

A
  • 5-HRRLPR variant of SLC6A4 gene – more at risk of developing depression from traumatic events and less likely to recover
20
Q

explain the Variation of cAMP gene experiment

A
  • Everyone has cAMP gene - comes in different varietys:
    -A/A - poor aerobic exercise capacity and endurance
    -A/G- increased body temp during exercise
    -G/G - fewer cardiovascular improvements from exercise
  • Measure 116 people on:
    -Endurance;
    When does it start to get hard?
    When you feel hot
    When do u give up
    -CO2:O2 exchange rate
    -Volume of air pumped
  • People lied to about if they have protective or at high risk
21
Q

Variation of cAMP gene experiment RESULTS

A
  • People lied to about if they have protective or at high risk
  • people told they were at high risk gave up earlier
  • Being told lies overpowers the gene