7.2 okvare DNA in genetske bolezni Flashcards

1
Q

na ravni gena so točkovne mutacije najpogostejša posledica

A

zamenjave nukleotida

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2
Q

pomnožitev trinukleotidnih zaporedij v DNA je povezana z nekaterimi

A

malignomi
nevrološkimi obolenji

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3
Q

avtosomsko dedovanje

A

gen se nahaja na katerem koli kromosomu razen kromosomov Y in X

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4
Q

značilnosti mitohondrijskega dedovanja

A

dedovanje izključno po materi
bolezen se pogosto ne izrazi ob rojstvu

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5
Q

trisomija

A

3x kopija določenega kromosoma
downov sindrom=trisomija 21. kromosoma

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