week 22 Flashcards

1
Q

what causes down syndrome

A

an extra chromosome 21. chromosome 21 pairs during meiosis but fails to separate. trisomy 21

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2
Q

what is Edward syndrome

A

three chromosome 18s. trisomy 18. shortens lifespan- more severe than downsyndrome

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3
Q

what is patau syndrome

A

trisomy 13- three chromosome 13s. usually die within a few years of birth.

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4
Q

what is turner syndrome

A

monosomy X. this is lethal as well as all other monosomies.

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5
Q

whats sickle cell anaemia and how is it caused

A

when the sickle cells cannot deform through narrow vessels and get stuck, causing blockages. caused by mutation in haemoglobin b

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6
Q

what does the spleen do

A

remove defective red blood cells

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7
Q

what is haemoglobin composed of

A

two subunits- alpha and beta

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8
Q

how can sickle cell proteins be seperated

A

by electrophoresis- the sickle version of the gene is more positive, so travels further to negative electrode.

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9
Q

how can the sickle cell trait be induced in heterozygotes

A

very low oxygen

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10
Q

what does the sickle cell trait protect against

A

malaria. invasion of parasite causes sickle cells to sickle, parasite cannot grow as well in sickle cells, then sickle cells are cleared out rapidly by the spleen

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11
Q

define discrete vs continuous in probability distributions

A

discrete- random variable takes on only specific values
Continuous- random variable can take on any value from an interval

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12
Q

when is theoretical discrete probability calculated

A

calculated before trials

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13
Q

when is empirical discrete probability calculated

A

calculated after trials

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