B2 - Genetic factors that affect development Flashcards

1
Q

What does predisposition mean?

A

The possibility you will develop a certain condition

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2
Q

What does genetic predisposition mean?

A

You inherit the possibility to develop a certain condition from one or both of your biological parents

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3
Q

Does genetic predisposition of a condition give you a certainty that you will get it?

A

No

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4
Q

What is cystic fibrosis caused by?

A

A faulty gene

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5
Q

Is cystic fibrosis a recessive or dominant condition?

A

Recessive

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6
Q

What is a recessive condition?

A

A condition that both parents have to have the genes for to get it

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7
Q

What is a dominant condition?

A

A condition that only one parent has to have the genes for to develop it

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8
Q

What is the chance a child will be born with Cystic fibrosis if both parents have the gene?

A

1/4

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9
Q

What is cystic fibrosis?

A

A defective protein being produced that can cause the lungs to become clogged with thick, sticky mucus

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10
Q

What do people with CF have problems with?

A
  • Absorbing nourishment from food
  • Respiratory and chest infections
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11
Q

What is the life expectancy if you have CF?

A

In the past, it was a very short life expectancy, but it has increased due to new technology

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12
Q

What are treatments for CF?

A
  • Physiotherapy to help clear mucus from lungs
  • Drugs to help control breathing, infections and absorb food
  • Special diet
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13
Q

What is brittle bone disease caused by?

A

May be passed from parents but can also be from a genetic mutation

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14
Q

What is brittle bone disease?

A

When a child is at high risk of fracturing or breaking bones because there bones develop without the right amount or type of collagen

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15
Q

What are treatments for brittle bone disease?

A
  • Physiotherapy
  • Assistive equipment
  • Drug treatments
  • These strengthen the bones
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16
Q

What is PKU

A
  • Genetic disorder that prevents a child from breaking down phenylalanine, an amino acid found in many foods
  • If the person eats food with that amino acid in it causes a build up of harmful substances in the body damaging brain development
  • All babies are screened for this at birth using a heel prick test
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17
Q

What are treatments for PKU?

A
  • Special diet
  • Medication
  • To prevent buildup
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18
Q

What would untreated PKU result in?

A

Severe learning disability and death

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19
Q

At what age does Huntingtons disease normally develop?

A

Any age but often between ages of 35 and 55

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20
Q

What is Huntington’s disease?

A
  • Inherited neurodegenerative disorder
  • Causes progressive damage to certain nerve cells in the brain
  • Perception, awareness, thinking and judgement affected
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21
Q

What are the symptoms of Huntington’s disease?

A
  • Problems with muscle coordination
  • Mental decline
  • Behavioural changes
  • Earliest signs hardly noticeable
  • As the disease progresses, psychiatric conditions may develop and problems with feeding
  • During later stages, the person is increasingly dependant on others for care and support
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22
Q

What causes Kleinfelter syndrome?

A
  • Around 1 in 600 boys will be born with the condition
  • Caused by an extra chromosome and is not inherited as its acquired after conception
23
Q

What are signs of Kleinfelter syndrome in babies?

A
  • Slow in reaching milestones
  • May be born with undescended testicales
  • Poor muscle power
  • Delayed communication
  • Passive personality
24
Q

What are physical and cognitive effects of Kleinfelter syndrome?

A
  • May have mild learning difficulties
  • Low energy llevels
  • Extra growth spurts
  • Testes do not increase in size
  • May be a lack of testosterone (causing low muscle tone, flabby body and reduction of calcium in bones)
  • Small penis
  • May be issues with libido and fertility
25
Q

How is Downs syndrome caused?

A
  • Caused by an extra chromosone
  • Around 60,000 people in the Uk have it
  • Higher risk of having a child with Down’s syndrome the older the mother is
26
Q

What is the life expectancy of someone with Down’s syndrome?

A

Generally between 50 and 60 years

27
Q

What are the effects of Down’s syndrome?

A
  • Learning disabilities
  • Physical features and medical issues
  • Higher incidence of depression
  • Hearing, visual and heart problems more common
28
Q

What is colour blindness?

A
  • True colour blindness very rare
  • Some people have colour vision deficiency were they have difficulty distinguishing between certain colours
29
Q

How many people in Britain have colour blindness?

A

2.7 million people in Britain

30
Q

How is colour blindness caused?

A
  • For the majority of people the condition is genetic caused by abnormality in the retina
  • Can be caused as a result of other conditions such as diabetes and MS
31
Q

What is Duchenne muscular dystrophy?

A
  • A group of inherited conditions that gradually weaken muscles leading to disability
  • It is a progressive condition which worsens over time
32
Q

What causes Duchenne muscular dystrophy?

A
  • Inherited on the female gene and only passed to male offspring
  • Caused by genetic mutations on the X chromosome which prevents the body from producing a vital protein which is essential for building and repairing muscles
33
Q

What age is a persons usually diagnosed with Duchenne muscular dystrophy?

A

Usually by the age of 5

34
Q

What are the effects of Duchenne muscular dystrophy?

A
  • By the time a person is 12, they likely will need a wheelchair
  • Fine motor less affected than gross motor
  • Causes severe health problems, as the muscles of the heart and lungs weaken
35
Q

What is the life expectancy of someone with Duchenne muscular dystrophy?

A

Around 30

36
Q

How many types of cancer is there?

A

Over 200

37
Q

What is cancer?

A

A cell disease that results in them becoming abnormal and dividing to make even more abnormal cells

38
Q

How is cancer caused?

A

Can be genetic risks and lifestyle risks

39
Q

How many cancers can be prevented by making good lifestyle choices?

A

Over 40%

40
Q

What is type 1 diabetes?

A

Early onset, insulin dependant

41
Q

What is type 2 diabetes?

A

When it occurs later

42
Q

What is diabetes?

A

A condition that causes a person’s blood sugar level to become to high

43
Q

What is the risk of developing type 2 diabetes if you have an identical twin who’s diabetic?

A

90%

44
Q

What can cause high blood cholesterol?

A
  • Unhealthy diet
  • Smoking
  • Lack of excersise
  • Genetics
45
Q

What is cholesterol?

A

A fatty substance that is carried around the body by proteins

46
Q

What can too much cholesterol cause?

A
  • Build up in artery walls
  • Can cause heart disease and other cardiovascular diseases
47
Q

What causes foetal alcohol syndrome?

A

Mother drinking alcohol while pregnant

48
Q

What symptoms would a baby born with foetal alcohol syndrome have?

A
  • Tend to be smaller
  • Have smaller heads than normal
  • May have heart defects, learning difficulties and neurological problems
49
Q

What may happen if a pregnant woman contracted rubella?

A
  • Particularly dangerous in first month of pregnancy
  • May may the baby born with impaired hearing or eyesight or a damaged heart
50
Q

How can CMV affect a person?

A
  • Most people have no noticeable symptoms
  • If a pregnant woman contracted it, it would be passed to the baby causing congenital CMV. Can cause miscarriage, deafness, learning difficulties
51
Q

What diet should a pregnant person have?

A
  • Healthy
  • Plenty of starchy foods
  • High protein diet
52
Q

What are the most common congenital defects?

A
  • Heart defects
  • Neural tube defects
  • Down syndrome
53
Q

What factors can cause congenital defects?

A
  • Genetic
  • Socio-economic
  • Environmental
  • Infectious diseases