mendelian and non-mendelian characteristics Flashcards

1
Q

what are the characteristics of sickle cell disease

A

Pain+++​

Cold, dehydration, infections​

Jaundice, stroke, leg ulcers, eyes, kidneys​

African, Mediterranean, Middle-East, Indian​

Anaesthetic issues​

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2
Q

what is the cause of sickle cell disease

A

abnormal point mutation gene

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3
Q

what is cystic fibrosis disease

A

this is a disease caused by the mutation of the gene for the chloride channel in the lungs.

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4
Q

difference between the normal CFTR channel and an abnormal CFTR channel.

A

mutant CFTR channel does not move chloride ions causing sticky mucus to build up on the outside of the cell.

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5
Q

example of CFTR sequence

A

there is deletion of certain numbers in the genes coding

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6
Q

what does the term affected mean

A

being a carrier and those with the disease
chance of being carrier is 2/3 chance of being affected is 1/4

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7
Q
A
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