Humangenetik at Universität Göttingen

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Was ist das Usher Syndrom?

früh: Innenohrschwerhörigkeit

spät: Retinopathia pigmentosa

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Pleiotropie?

vielfältige Merkmalsausprägung

--> Mutation in einem Gen, mehrere Merkmale

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Allelische Heterogenität?

Mutationen in einem Gen bedingen unterschiedliche Erkrankungen

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Lokusheterogenität

Gene an unterschiedlichen Loci rufen den gleichen Phänotyp hervor

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Penetranz hereditäre Hämochromatose?

gering

30% der Männer

1% der Frauen klinisch krank

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Was ist die hereditäre Hämochromatose?

autosomal-rezessiv

erhöhte Eisenresorption im Dünndarm und Eisenablagerung in Organen

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ab wieviel Gramm Eisen klinische Manifestation der Hämochromatose?

15-40g

(normal: 4-5g)

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Hereditäre Chromatose Spätzeichen?

Bronzefärbung der Haut

Leberzirrhose

Kardiomyopathie

endokrine Störungen

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Transferrinsättigung bei hered. Hämochromatose?

> 45%

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Gen ursächlich für hereditäre Hämochromatose?

HFE-Gen

Hepcidinsynthese gestört (mehr Eisen aus Zellen ins Blut gegeben)

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AR nicht-syndromale Hörstörung?

schwer bis sehr schwere Hörstörung

kein Progress

alle Frquenzen

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Wie wird das Usher Syndrom vererbt?

autosomal rezessiv

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Humangenetik at Universität Göttingen

Flashcards and summaries for Humangenetik at the Universität Göttingen

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