Genetic and Environmental Causes of Disease Flashcards

1
Q

What are the four main causes of disease?

A

1- Genetic
2- Environmental
3- Combination (multi-factorial)
4- Unknown

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2
Q

How can the cause of diseases be identified?

A

1- Laboratory studies
2- Family studies
3- Epidemiology

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3
Q

What is heritability?

A

A statistic which estimates the extent to which observed differences are caused by genes.

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4
Q

What factors could lead to traits running in families?

A

1- Genes
2- Social learning or modeling
3- Operant conditioning (reward-based learning, positive/negative reinforcement and punishment)
4- Chance

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5
Q

What heritable trait can change across generations?

A

Height

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6
Q

What highly heritable conditions are easily modified?

A

1- Vision

2- Mental retardation due to Phenylketonuria (PKU)

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7
Q

What interventions can heritable conditions respond to?

A

1- Drug intervention
2- Social intervention
3- Behavioural intervention

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8
Q

How is heritabililty measured?

A

1- Family studies
2- Twin studies
3- Adoption studies
4- Migrant studies

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9
Q

What factors do mono zygotic twins share?

A

1- Genes

2- Environment

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10
Q

What factors do dizygotic twins share?

A

1- Environment

2- Same amount of genetic info as any other sibling

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11
Q

In twin studies conducted to see if IQ is heritable, what problems may affect the results?

A

1- Monozygotic twins share their environment more than dizygotic twins due to being more encouraged to spent time together
2- Monozygotic twins may not have shared the same uterine environment due to varying concentrations of amniotic fluid cells

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12
Q

How are phenotypes quantified?

A

Phenotype = genes + environment + (genes * environment)

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13
Q

How is heritability quantified?

A

H2= Vg/Vg+Ve+V(g*e)

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14
Q

What four factors or types of disease can be influenced by the environment?

A

1- Infection
2- Injury from chemical agents
3- Injury from physical agents
4- Behaviour

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15
Q

What are the seven infectious agents?

A
1- Bacteria
2- Viruses
3- Fungi
4- Yeast
5- Protozoa
6- Parasites
7- Prions
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16
Q

What are prions?

A

1- Proteins that replicate

2- E.g. mad cow disease or Creutzfeldt-Jakob disease in humans

17
Q

What is viral tropism?

A

A virus which will only infect a host if it has the right receptors, cell types, or environment.

18
Q

What are the seven modes of transmission?

A

1- Droplet (droplets from cough or sneeze)
2- Faeco-oral (fecal particles enter oral cavity)
3- Venereal (STI)
4- Blood
5- Water
6- Food
7- Vectors/fomites (inanimate vector e.g. touching a public phone)

19
Q

What are the four types of transmission?

A

1- Horizontal (individuals of same generation)
2- Vertical (across generations)
3- Zoonoses (from animals to humans)
4- Nosocomial (healthcare transmitted infections)

20
Q

What chemical agents can lead to disease?

A
1- Smoking
2- Alcohol
3- Drugs
4- Dust 
5- Food
21
Q

What diseases are associated with smoking?

A

1- Mutagenic- cancer
2- Inflammation- chronic obstructive pulmonary disease (COPD)
3- Nicotine receptors- increased blood pressure and heart rate
4- Endothelial damage
5- Carbon monoxide levels- intrauterine growth retardation

22
Q

What are the benefits of alcohol?

A

In small amounts, alcohol can reduce the risk of heart disease

23
Q

What can large doses of alcohol lead to?

A

Cirrhosis (chronic disease of liver due to increased scar tissue)

24
Q

The metabolism of alcohol leads to what consequences which underlie disease?

A

1- Acetaldehyde- carcinogenesis
2- Increased oestrogen levels
3- Decreased NAD levels alters lipid metabolism
4- Reactive oxygen damages lipid membranes
5- Decreased vitamin B levels
6- Depressed CNS function
7- Teratogenic (affects development of embryo)

25
What conditions can be caused by dust?
1- Asbestos can cause mesothelioma 2- Coal dust can cause pneumoconiosis (inflammation, fibrosis and sometimes necrosis of the lungs) 3- Asthma 4- Hayfever
26
What conditions can be caused by drugs?
1- Therapeutic drugs may have adverse side-effects | 2- Recreational drugs may gradually damage body and bodily function
27
How can food affect the body adversely?
1- Unhealthy diet | 2- Sudden change in diet
28
What are the different types of injury from physical agents?
1- Mechanical injury (trauma) 2- Thermal injury 3- Radiation
29
What are the types of thermal injury?
1- Hypothermia 2- Fever (pyrexia) 3- Burns
30
What are the types of radiation that may lead to injury?
1- Ionising | 2- Non-ionising (UV lights)
31
What is the Hardy-Weinberg principle?
Allele and genotype frequencies will remain constant from one generation to another in the absence of environmental factors (this is not always true!)
32
Describe the balance between the risk of SCA and the protection that it provides against malaria
Hb-A normal blood cells, Hb-S sickle cells 1- Normal blood cell (Hb-A, Hb-A): no SCA but die from malaria 2- Sickle cell anaemia (Hb-S, Hb-S): resistant to malaria but SCA may be fatal 3- Heterozygotes (Hb-A, Hb-S): Blood has some normal cells and some sickle cells, more restistant to malaria. This has the most survival advantage.