Humangenetik at Universität Mainz

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1953

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1988, erste Gendiagnostik bei monogenen Krankheiten

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Cystische Fibrose

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Exemplary flashcards for Humangenetik at the Universität Mainz on StudySmarter:

Hardy-Weinberg-Gesetz

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DNA-Klonierung 1972

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1975-77

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Gesetz 14. Juli 1933

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Exemplary flashcards for Humangenetik at the Universität Mainz on StudySmarter:

Fragiles X-Syndrom (Martin-Bell-Syndrom)

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1956

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1959 Chromosomenkrankheiten

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Neumutation bei schwer autosomal dominant oder x-chromosomalen Erkrankungen

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Exemplary flashcards for Humangenetik at the Universität Mainz on StudySmarter:

Gendiagnostikgesetz 1.2.10

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Exemplary flashcards for Humangenetik at the Universität Mainz on StudySmarter:

Humangenetik

1953

DNA-Doppelhelix
Watson-Crick

Humangenetik

1988, erste Gendiagnostik bei monogenen Krankheiten

bei Muskeldystrophie Duchenne

Humangenetik

Cystische Fibrose

autosomal rezessive Störung

-Häufigkeit 1:2500
-Heterozygotenhäufigkeit 1:25
-4% der Bevölkerung gesunde mischerbige Träger einer CF-Mutation (jeder 25.)

Humangenetik

Hardy-Weinberg-Gesetz

p^2+2pq+q^2=1

Humangenetik

DNA-Klonierung 1972

Isolierung und Vervielfältigung von definierten DNA-Fragmenten in Bakterien und Hefen

Humangenetik

1975-77

DNA-Sequenzierung

Humangenetik

Gesetz 14. Juli 1933

Gesetz zur Verhütung erbkranken Nachwuchses

Humangenetik

Fragiles X-Syndrom (Martin-Bell-Syndrom)

Geistige Behinderung

Hyperaktivität
Makrocephalie
große Ohren

längliches Gesicht

überwiegend männliches Geschlecht

Humangenetik

1956

Erste richtige Beobachtung des menschlichen Karyotyps (46 Chromosomen)

Humangenetik

1959 Chromosomenkrankheiten

G-Chromosom als Ursache für Trisomie 21

Humangenetik

Neumutation bei schwer autosomal dominant oder x-chromosomalen Erkrankungen

meist in den Spermien

starke Abhängigkeit vom väterlichen Alter

Humangenetik

Gendiagnostikgesetz 1.2.10

genetische Untersuchungen beim Menschen und die Verwendung genetischer Daten in Deutschland

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