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38 Cards in this Set
- Front
- Back
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What are Gametes? |
Sperm and egg (ova) cells |
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What is a Zygote? |
The 8 cell stage after fertilisation |
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Example if a recessive disease |
Cystic fibrosis |
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Example of a dominant disease |
Huntingtons disease |
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What is Homozygous? |
Two of the same alleles |
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What is Heterozygous? |
Two different alleles |
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What are the sex determining genes? |
Male- XY XYY (extra testosterone)
Female- XX
A male sperm can have either the X or Y chromosomes
A female ova (egg) only has a X chromosome |
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How many chromosomes are in a sperm cell?
How many chromosomes are in an ova (egg)? |
Sperm= 23 chromosomes
Ova= 23 chromosomes
46 chromosomes in one human body |
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Name the features of and ova (egg cell) |
Nucleus Cell membrane Large cytoplasm (food storage) |
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Name the featured of a sperm cell: |
Nucleus Head to penetrate the ova Cytoplasm Tail to allow it to swim Mitochondria (produces energy) |
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What does the nucleus contain? |
Carries genetic information (DNA) |
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What is an allele? |
Two or more alternatives form a gene and found in the same chromosome. |
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What is a gene? |
Made up of DNA and crate proteins. |
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What is a Genotype? |
The genetic constitution of an individual organism |
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What is a phenotype? |
The set of observable characteristics of an individual resulting of its genotype with the environment |
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How do identical twins form? |
When and embryo splits into two separate embryos. |
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How do fraternal twins form? |
When a second ova has been released and is fertilised by two sperm cells |
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Facts about the Y chromosome: |
A male embryo starts to develop testes at 6 weeks old
This is caused by the SRY gene on the Y chromosomes
SRY means sex-determine region of the Y chromosome |
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Name the structural proteins: |
Skin- collagen Hair- keratin |
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What does false negative mean ? |
They have been told that they don't have the disease but they do |
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What does false positive mean? |
This is when you are told that you do have the disease but you don't |
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What does PND stand for? |
Pre natal diagnosis |
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What is amniocentesis? |
The testing of the amniotic fluids around the baby |
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What is chorionic villus sampling? |
When they take a sample of tissue |
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Facts about amniocentesis |
Foetal cells from the amniotic fluid are removed
0.5% miscarriage risk
Results not 100% reliable
Results at 15-18 weeks |
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Facts about the chorionic villus test: |
2% miscarriage risk
Results not 100% reliable
Results at 10-12 weeks
Almost no risk of infection
Foetal cells from the placenta are removed |
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What is IVF? |
In vitro fertilisation
Fertilising an egg in a test tube
A fertility drug helps a donor release a number of eggs
The eggs are fertilised to produce embryos
Healthy embryos are selected and implanted
The mother gives birth to a baby
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What does PGD stand for ? |
Pre implantation genetic diagnosis
This is used during IVF
This is used to see that the egg cells are healthy |
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What are the for and against of PGD? |
For:
- won't be born with any disease - helps people who can't conceive naturally - relieve the stress if having affected child - better quality of life
Against:
- creating a baby for a sensitive reason - destroys embryos - costs money - not 'natural conception' (playing God) |
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Name the functional proteins: |
Enzymes- amylase |
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Can you catch a genetic disorder? |
No as it inherited by passed down genes from parent and grandparents |
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Name the symptoms of cystic fibrosis: |
- coughing - feeling sick - heavy mucus ( hard to breathe) - loss of weight ( hard to gain it back) - tiredness |
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Facts about cystic fibrosis |
It is life threatening
Life expectancy around 34 years
Change your entire life
Restricted energy
A person with cystic fibrosis needs to have a high calorie diet
The person needs to take enzymes for digestion of the foods
Eternal organs working overdrive. |
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The treatments for cystic fibrosis |
Nebuliser
Inhalers
Pills (40-60 a day)
Exercise
Sterilise equipment
The percussor breaks down the mucus so it makes it easier for the person to get ride of it |
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What are the outcomes of cystic fibrosis? |
Lung transplant -
Expands your life expectancy for about 5 years but you could still die at a very young age
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What are symptoms of huntingtons disease? |
- memory loss - thought patterns (hard to communicate) - mixed moods and emotions - aggressiveness - anxiety - depression - change in sexual behaviour - lack of movement and motivation |
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Facts about huntingtons disease: |
50% chance of passing it onto children
Most harmful when not in clumps
Life expectancy of 30-50 years
6% chance of juvenile inheritance
People die about 10-20 years after the symptoms start
Hard to walk
Clumsy and restless
Twitches and muscle spasms
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Treatment of huntingtons disease: |
No cure
Try to relieve symptoms
Therapy
Drugs |
