ligos Flashcards

1
Q

hantingtono liga

A

progresuojanti liga, paveldima AD.
monogenine, HTT genas, 4 chromosoma, trumpasis petys, CAG tripletu skaiciaus padidejimas

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2
Q

pjautuvine anemija

A

AR, monogenine, HBB genas.Taciau ir heterozigotoms stebimi pakite eritrocitai, tad hematologinis pjautuvines anemijos pozymis - dominantinis.

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3
Q

paveldimos medziagu apykaitos ligos

A

monogenines, AR paveldima.

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4
Q

achondroplazija - skeleto displazija

A

semidominantine liga, AA - letalu naujagimysteje, Aa - skeleto sutrikimai

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5
Q

seimine hipercholesterolemija

A

monogenine, LDLR genas, AD paveldima.

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6
Q

fenilketonurija

A

monogenine, PAH genas, AR paveldima. simptomai gali skirtis ir del kitu genu poveikio, nes simptomai yra daugiaveiksniai (IQ, Phe koncentracija ir pns)

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