Humangenetik at Universität Göttingen

Flashcards and summaries for Humangenetik at the Universität Göttingen

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Exemplary flashcards for Humangenetik at the Universität Göttingen on StudySmarter:

Wie wird das Usher Syndrom vererbt?

Exemplary flashcards for Humangenetik at the Universität Göttingen on StudySmarter:

Was ist das Usher Syndrom?

Exemplary flashcards for Humangenetik at the Universität Göttingen on StudySmarter:

Pleiotropie?

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Exemplary flashcards for Humangenetik at the Universität Göttingen on StudySmarter:

Allelische Heterogenität?

Exemplary flashcards for Humangenetik at the Universität Göttingen on StudySmarter:

Lokusheterogenität

Exemplary flashcards for Humangenetik at the Universität Göttingen on StudySmarter:

Penetranz hereditäre Hämochromatose?

Exemplary flashcards for Humangenetik at the Universität Göttingen on StudySmarter:

Was ist die hereditäre Hämochromatose?

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Exemplary flashcards for Humangenetik at the Universität Göttingen on StudySmarter:

ab wieviel Gramm Eisen klinische Manifestation der Hämochromatose?

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Hereditäre Chromatose Spätzeichen?

Exemplary flashcards for Humangenetik at the Universität Göttingen on StudySmarter:

Transferrinsättigung bei hered. Hämochromatose?

Exemplary flashcards for Humangenetik at the Universität Göttingen on StudySmarter:

Gen ursächlich für hereditäre Hämochromatose?

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Exemplary flashcards for Humangenetik at the Universität Göttingen on StudySmarter:

AR nicht-syndromale Hörstörung?

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Exemplary flashcards for Humangenetik at the Universität Göttingen on StudySmarter:

Humangenetik

Wie wird das Usher Syndrom vererbt?

autosomal rezessiv

Humangenetik

Was ist das Usher Syndrom?

früh: Innenohrschwerhörigkeit

spät: Retinopathia pigmentosa

Humangenetik

Pleiotropie?

vielfältige Merkmalsausprägung

--> Mutation in einem Gen, mehrere Merkmale

Humangenetik

Allelische Heterogenität?

Mutationen in einem Gen bedingen unterschiedliche Erkrankungen

Humangenetik

Lokusheterogenität

Gene an unterschiedlichen Loci rufen den gleichen Phänotyp hervor

Humangenetik

Penetranz hereditäre Hämochromatose?

gering

30% der Männer

1% der Frauen klinisch krank

Humangenetik

Was ist die hereditäre Hämochromatose?

autosomal-rezessiv

erhöhte Eisenresorption im Dünndarm und Eisenablagerung in Organen

Humangenetik

ab wieviel Gramm Eisen klinische Manifestation der Hämochromatose?

15-40g

(normal: 4-5g)

Humangenetik

Hereditäre Chromatose Spätzeichen?

Bronzefärbung der Haut

Leberzirrhose

Kardiomyopathie

DM

endokrine Störungen

Humangenetik

Transferrinsättigung bei hered. Hämochromatose?

> 45%

Humangenetik

Gen ursächlich für hereditäre Hämochromatose?

HFE-Gen

Hepcidinsynthese gestört (mehr Eisen aus Zellen ins Blut gegeben)

Humangenetik

AR nicht-syndromale Hörstörung?

schwer bis sehr schwere Hörstörung

kein Progress

alle Frquenzen

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Humangeo at

Universität Mainz

Genetik at

University of Fribourg

Humangenetik KMP 1a at

Medizinische Universität Innsbruck

Genetik at

Medizinische Hochschule Hannover

Humangenetik basics at

Medizinische Hochschule Hannover

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