Inherited Disorders Flashcards

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1
Q

What is cystic fibrosis?

A

a genetic disorder effecting cell membranes resulting in overproduction of sticky mucus in the airways and pancreas

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2
Q

what happens in the body of someone with cystic fibrosis?

A

the excessive mucus can block air passages and affect pancreatic function

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3
Q

is the allele for cystic fibrosis dominant or recessive?

A

recessive

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4
Q

what is the term for people who carry one copy of the cystic fibrosis allele but do not have the disorder themselves?

A

carriers

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5
Q

how common is the cystic fibrosis allele in the population?

A

approximately 1 person in 25 have it

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6
Q

what is polydactyly?

A

-a genetic disorder where a baby is born with extra fingers or toes
-it is not typically life threatening and does not cause any other problems

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7
Q

what type of allele causes polydactyly?

A

the dominant allele ‘D’

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8
Q

can polydactyly be inherited if just one parent carrier the defective allele?

A

yes as the allele is dominant

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9
Q

what is the chance of a child having polydactyly is one parent has the ‘D’ allele ?

A

50%

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10
Q

what is possible to do with embryos before IVF?

A

before implantation it is possible to remove a cell from each embryo and analyse its genes

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11
Q

give an example of a genetic disorder that can be detected through embryo screening?

A

cystic fibrosis

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12
Q

why might DNA testing be done on embryos in the womb?

A

to screen for genetic disorders

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13
Q

what is the potential outcomes for embryos with ‘‘bad’’ alleles after screening during IVF?

A

they may be destroyed after screening

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14
Q

what decision from a mother could embryo screening lead to?

A

pregnancy termintion

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15
Q

what are the advantages of screening?

A

1)It will help to stop people suffering.
2) Treating disorders costs the Government (and the taxpayers) a lot of money.
3) There are laws to stop it going too far. e.g. parents cannot even select the sex of their baby (unless it’s for health reasons).

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16
Q

what are the disadvantage of screening?

A

1)It implies that people with genetic problems are ‘undesirable’ — this could increase prejudice.
2) There may come a point where everyone wants to screen their embryos so they can pick the most ‘desirable’ one, e.g. they want a blue-eyed, blond-haired, intelligent boy.
3) Screening is expensive.