Mutations And Diseases Flashcards

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1
Q

What is a mutation?

A

A change in a gene or a chromosome. It can cause a change in a characteristic.

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2
Q

Sometimes mutations can be _______, but sometimes mutations can be ________ or even _________.

A

Harmful
Neutral
Beneficial

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3
Q

What was one of the first mutations studied?

A

In the fruit fly. The normal eye color is red. But a mutant white eye form was discovered. A gene controlling eye color color had suddenly changed. This was due to a change in the DNA base sequence. The gene no longer coded for the production of red eye color. It now coded for white eyes.

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4
Q

In albinos a gene controls production of the skin pigment ________. This protects the skin from ultra-violent light. It gives you freckles and suntan. The structure of a gene ________, so it is no longer coded for the production of melanin.

A

Melanin

Mutates

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5
Q

If a pathogen like a bacterium developed a mutation that gave it resistance to an _________. The mutant gene codes for an _______ that breaks down the antibiotic. So the bacterium increases in numbers out-_________non-________ forms.

A

Antibiotic
Enzyme
Competing
Resistant

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6
Q

Gene mutations are usually ________.

A

Recessive

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7
Q

What can cause mutations?

A

Radiation and some chemicals can cause mutations. Ultra-Violent radiation and gamma rays are the most damaging. Greater the does the greater the chance of mutation

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8
Q

Give an example when there was mass doses of radiation.

A

WW2 When atomic bombs were dropped on Japan. Many babies were born with defects and over a number of years people developed various cancers.

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9
Q

How many people are affected with cystic fibrosis?

A

1 in 2000

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10
Q

Effects of cystic fibrosis:

A

They produce thick sticky mucus. This can block air passages and the tubes that carry digestive juices to the gut. So the child sometimes has difficulty breathing and absorbing food.

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11
Q

Treatment for cystic fibrosis:(2)

A

Chest therapy

Gene therapy- Inhalers are used to spray millions of copies of the correct gene into cells lining the lungs

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12
Q

The _______ is a good breeding ground for germs. Sufferers often get __________ and have to be treated with strong antibiotics. Each infection leaves the lung more damaged and the child becomes more ill.

A

Mucus

Infections

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13
Q

Cystic is cause by a _________ allele.

A

Recessive

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14
Q

Huntington’s shows up in 1 in ________. It shows up when the patient is about ___ to ____ years old.

A

20000
30
40

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15
Q

Effects of Huntington’s

A

The cells of the brain degenerate and the patient makes clumsy and jerky movements. Sufferers become moody and depressed. Their memory is affected and they eventually become totally disabled.

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16
Q

Huntington’s is caused by a _______ allele.so only _____ allele is needed to give the disease.

A

Dominant

One

17
Q

What is sickle cell anaemia?

A

Inherited disease of the blood in which the red blood cells have formed an S-shape like sickle.

18
Q

Effects of sickle cell:

A

Red cells have abnormal haemoglobin amusing the shape which makes it hard for the red cells to carry oxygen.

19
Q

Where is sickle cell mostly found?

A

West Africa

20
Q

Sickle cell is caused by a ________ allele. The child inherits the allele from each parent and is ____________ recessive.

A

Recessive

Homozygous

21
Q

Advantages of sickle cell:

A

Being a carrier makes you resistant to malaria.