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Unit 3 Anatomy & Physiology > A5 - Human Genetics > Flashcards

A5 - Human Genetics Flashcards

1
Q

What is an allele

A

A gene that gives different traits

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2
Q

What is a trait?

A

A genetically determined characteristic

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3
Q

What is a dominant allele?

A

An allele that produces a certain phenotype in an organism always represented by a CAPITAL letter

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4
Q

What is a recessive allele?

A

An allele that will not affect an individual. This is represent by a LOWER case letter and needs 2 copies of the same lower case letter to represent a trait

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5
Q

What does homozygous mean?

A

The same alleles

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6
Q

What does heterozygous mean?

A

Two different alleles

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7
Q

What does genotype mean?

A

The genetic information of a person

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8
Q

What does phenotype mean?

A

This is the resulting appearance of an individual from the genetic makeup

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9
Q

How many copies of a dominant allele is needed for a characteristic to be expressed?

A

1

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10
Q

How many copies of a recessive allele is needed for a characteristic to be expressed?

A

2

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11
Q

What are the 3 recessive conditions you need to know?

A
  • cystic fibrosis
  • PKU
  • sickle cell
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12
Q

What is the only dominant condition you need to know?

A

Huntington Disease

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13
Q

To get all marks in your exam for punnet square questions what MUST you include?

A
  1. Draw the punnet square correctly
  2. What would the probability be for the individual
  3. Is it a dominant or recessive condition?
  4. What are the parents alleles? (Homozygous or Heterozygous)
  5. Is the condition recessive or dominant?
  6. What is the overall genotype of the affected individual?
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14
Q

What do each square of the punnet square represent?

A

25%

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15
Q

What does 2 squares of the punnet square represent?

A

50%

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16
Q

What does 3 squares of the punnet square represent?

A

75%

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17
Q

Can you be a carrier of Huntington’s disease?

A

No

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18
Q

What is/causes Down’s syndrome?

A

A condition where a baby is born with an extra chromosome. A baby is at higher risk of getting this if their mother is over the age of 35

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19
Q

What are the symptoms/affected PIES of Down’s syndrome?

A
  • flat nose (physical)
  • struggle to speak and learn (social)
  • anxiety (emotional)
  • stubbornness (intellectual)
20
Q

How is Down’s syndrome treated?

A
  • speech and language therapist can help speaking
  • physiotherapist can help walking if they have low muscle tone
21
Q

What is Huntington’s disease?

A

A brain disease that is inherited

22
Q

What causes Huntington’s disease?

A
  • A mutation in the gene for a protein called huntingtin
  • Inheritance
23
Q

What are the symptoms/affected PIES of Down’s syndrome?

A
  • slurred speech (physical)
  • concentration and memory decline (intellectual)
  • lack of emotions (emotional)
  • social isolation (social)
24
Q

Can Huntington’s disease be cured?

A

No

25
Q

What is/causes PKU?

A

A change in gene that helps create an enzyme needed to break down phenylalanine

26
Q

What are the symptoms/affected PIES of PKU

A
  • frequent tantrums (emotional)
  • self-harm (physical)
  • social withdrawal (social)
  • brain damage (intellectual)
27
Q

What are the treatments for PKU?

A
  • a lifetime diet of foods without phenylalanine
  • PKU formula to get enough protein without phenylalanine
28
Q

What is sickle cell disease?

A

A group of haemoglobin related blood disorders

29
Q

How is this caused?

A

Inheritance

30
Q

What are the symptoms/affected PIES of sickle cell?

A
  • painful episodes (physical/emotional)
  • yellowing of skin, eyes and mouth (physical)
  • cognitive impairment (intellectual)
  • feelings of anxiety, shame, isolation (social)
31
Q

What are the treatments for sickle cell?

A
  • pain medicine
  • blood transfusion
  • vaccines
  • bone marrow transplant
32
Q

What is cystic fibrosis?

A

An inherited condition that causes sticky mucus build up in the lungs and digestive system

33
Q

What causes cystic fibrosis?

A

A mutation in the gene and this is an inherited condition

34
Q

What are the symptoms/affected PIES of cystic fibrosis?

A
  • poor growth (physical)
  • no intellectual effects
  • risk of developing clinical depression (emotional)
  • barriers forming friendships, lack of independence (social)
  • can’t socialise with people also with cystic fibrosis
35
Q

What are the treatments for cystic fibrosis?

A
  • no cure
  • antibiotics to prevent and treat chest infections which makes mucus easier to cough up
36
Q

What is the amniocentesis diagnostic method?

A

A small amount of amniotic fluid which is the water around the uterus is tested using a thin needle which takes the baby’s cells which contains genetic information. This is performed on woman who are 15-18 weeks pregnant.

37
Q

Why do woman have the amniocentesis procedure?

A

There are foetal cells that can be tested for genetic disorders like Downs Syndrome

38
Q

What are the risks of the amniocentesis procedure?

A
  • miscarriage
  • infection in the uterus
  • leaking amniotic fluids
39
Q

What happens if a woman is tested positive during the amniocentesis procedure?

A

If tested positive for a disorder and the termination of the pregnancy is chosen, this will be at a later stage of pregnancy and is likely to be more distressing.

40
Q

What is the Chronic Villus Sampling?

A

When a small sample of tissue is taken from the placenta for testing. The sample will contain some of your baby’s cells which contains genetic information. This is usually done from 11-14 weeks of pregnancy.

41
Q

Why do woman have the Chronic Villus Sampling procedure?

A

Because these results can tell you if the genetic condition has been discovered.

42
Q

Are there any risks of the Chronic Villus Sampling procedure?

A
  • miscarriage
  • infection
43
Q

What is the difference between Amniocentesis and Chronic Villus Sampling?

A

Amniocentesis uses a small amount of amniotic fluids from the sac surrounding the foetus whereas, CVS test a small cell from the mothers placent. Amniocentesis is also done from 15-18 weeks whereas, CVS is done earlier from 11-14 weeks of pregnancy

44
Q

For the Huntington Disease punnet square, what should the 1st punnet squares alleles be?

A

HH, Hh

45
Q

For the Huntington Disease punnet square, what should the 2nd punnet squares alleles be?

A

Hh, hh

46
Q

For the 3 main recessive conditions, what should their alleles be?

A

Both alleles need 1 UPPER case letter and 1 lower case letter

Unit 3 Anatomy & Physiology (17 decks)

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