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Unit 3 - Anatomy and Physiology > Human Genetics > Flashcards

Human Genetics Flashcards

1
Q

What is genetics?

A

the biological study of hereditary, attempting to predict the characteristics of offspring from mating

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2
Q

Name the 2 processes of cellular reproduction

A

meiosis

mitosis

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3
Q

Which process is used in the reproduction of sex cells (ova/egg and sperm(?

A

meiosis

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4
Q

Which process is used in the reproduction of eukaryotic cells?

A

mitosis

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5
Q

Describe the process of mitosis

A

a cell doubles its DNA, then splits into 2 identical daughter cells, each with 46 chromosomes (23 pairs)

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6
Q

Describe the process of meisos

A

a cell duplicates its DNA, then splits into 4 non-identical daughter cells, each with 23 chromosomes

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7
Q

What term means a cell has 23 chromosomes (half the amount of a eukaryoctic cell)

A

haploid

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8
Q

Which term means a cell has 46 chromosomes?

A

diploid

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9
Q

How many chromosomes does a diploid cell have?

A

46

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10
Q

How many chromosomes does a haploid cell have?

A

23

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11
Q

What name is given to the reproduction of sex cells such as ova and sperm?

A

meiosis

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12
Q

What is a gene?

A

a unit of hereditary on a pair of chromosomes

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13
Q

What is an allele?

A

half a gene, or the location of a characteristic on 1 chromosome

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14
Q

What does homozygous mean?

A

having two dominant or recessive alleles (both are the same)

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15
Q

What does heterozygous mean?

A

having 1 dominant and 1 recessive allele (one of each)

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16
Q

What does dominat mean?

A

if a dominant allele is present it displays the characteristic in the individual

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17
Q

What does reessive mean

A

that you need to have 2 of the same alleles to show the characteristic

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18
Q

Which term means that you have 2 of the same alleles?

A

homozygous

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19
Q

Which term means that you have 1 of each allele?

A

heterozygous

20
Q

What is a punnet square?

A

a diagram used to determine the probability of an offspring haing a particular genotype

21
Q

What is a phenotype?

A

the outward display of a characteristic (what you see)

22
Q

What is a genotype?

A

the individual’s make up of genes

23
Q

What is a gamete?

A

a sex cell (sperm or ova/egg)

24
Q

What is a zygote?

A

the cell produced when a sperm has fertilised an ovum (egg) which contains 1/2 it’s DNA from each - it has 46 chromosomes

25
Q

Is Cystic Fibrosis a dominant or recessive gene?

A

recessive

26
Q

Is Phenylketonuria a dominant or recessive gene?

A

recessive

27
Q

Is Sickle Cell Disease a dominant or recessive gene?

A

partially dominant

28
Q

Is Huntington’s Disease a dominant or recessive gene?

A

dominant

29
Q

What is Phenylketonuria?

A

where the body is unable to break down the amino acid phenylalanine, which builds up, leading to brain damage

30
Q

What is sickle cell disease?

A

where red blood cells develop abnormally, so they can block blood vessels, resulting in tissue and organ damage

31
Q

What is cystic fibrosis?

A

where your lungs and digestive system become clogged with thick, sticky mucous, causing respiratory infections

32
Q

What is Huntington’s Disease?

A

a condition which damage nerve cells in the brain, affecting movement, cognition, balance, awareness, judgement and mood

33
Q

What’s the probability of a child being born to 2 parents with phenylketonuria, having it?

A

100%

As its a recessive gene, both parents would be pp, so all children would be pp

34
Q

What’s the probability of a child being born to 1 homozygous PKU, and 1 heterozygous non-PKU parent?
(draw the punnet square to help you)

A

50% PKU

50% - unaffected carrier

35
Q

What are the possible genotypes of a person without PKU?

A

PP - homozygous non-PKU

Pp - heterozxygous non-PKU (these are carriers)

36
Q

What’s the probability of a child having PKU if they are born to 2 homozygous parents, 1 PKU, 1 non-PKU,

A

100% non-PKU (carriers)

37
Q

What’s the probability of a child having Huntington’s Disease if they are born to 2 heterozygous Huntington’s parents

A

75% Huntington’s
25% - HH
50% - Hh
25% - hh

38
Q

What’s the probability of a child having Huntington’s Disease if they are born to a homozygous Huntington’s and homozygous non-Huntington’s parents?

A

100% Huntington’s

all Hh

39
Q

If someone is heterozygous for Sickle Cell disease, what does that mean?

A

They have sickle cell trait (which means they’re 50% likely to get the symptoms of sickle cell disease)

40
Q

Which genetic disease is carried on a dominant gene?

A

Huntington’s disease

41
Q

Which genetic diseases are carried on recessive genes?

A

Cystic Fibrosis

Phenylketonuria

42
Q

Which genetic disease is partially dominant?

A

Sickle cell disease

43
Q

Identify 2 diagnostic tests that can be used to test if a foetus will be born with certain genetic diseases?

A

amniocentesis

chorionic villus sampling

44
Q

Describe amniocentesis

A

a long, thin needle is inserted through your abdominal wall, guided by an ultrasound image. A small sample of amniotic fluid is removed for analysis.

45
Q

Describe Chorionic Villus Sampling

A

a tube or small forceps are inserted through the cervix and a small sample of cells is removed from the placenta

Unit 3 - Anatomy and Physiology (14 decks)

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