Humangenetik basics at Medizinische Hochschule Hannover

Flashcards and summaries for Humangenetik basics at the Medizinische Hochschule Hannover

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Was bewirkt eine DNA-Methylierung?

Exemplary flashcards for Humangenetik basics at the Medizinische Hochschule Hannover on StudySmarter:

Für was ist Methylierung entscheidend?

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Methylierung
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Acetylierung

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M. Huntington Merkmal

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Fragiles X-Syndrom

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Myotone Dystrophie 
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Mendelsche Regeln

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Unabhängigkeitsregel eingeschränkt weil?

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Mukoviszidose Vererbung

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Lyon-Hypothese
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 Hämophilie, auch „Bluterkrankheit“ Vererbungsgang

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Exemplary flashcards for Humangenetik basics at the Medizinische Hochschule Hannover on StudySmarter:

Humangenetik basics

Was bewirkt eine DNA-Methylierung?
allgemein gilt: methylierte Regionen werden nicht transkribiert

Humangenetik basics

Für was ist Methylierung entscheidend?
Methylierung ist entscheidend an der Expressionskontrolle beteiligt

Humangenetik basics

Methylierung
MethylierungInaktivierung von Genen

Humangenetik basics

Acetylierung
Aktivierung von Genen

Humangenetik basics

M. Huntington Merkmal
Trinukleotiderkrankung,
Chr.4
CAG Repeats

Humangenetik basics

Fragiles X-Syndrom
Trinukleotiderkrankung,
Methylierung CpG-Insel,
Expandierende Trinukleotidrepeats im Gen FMR1

Humangenetik basics

Myotone Dystrophie 
Trinukleotiderkrankung
Curschmann-Steinert
CTG-Verlängerung,
DMPK= Myotonin-Proteinkinase-Gen auf Chromosom 19q
Kreatinkinase erhöht

Humangenetik basics

Mendelsche Regeln
1. Uniformitätsregel
2. Spaltungsregel
3. Unabhängikeitsregel

Humangenetik basics

Unabhängigkeitsregel eingeschränkt weil?

Diese Regel gilt nur eingeschränkt, nämlich für Gene, die auf verschiedenen Chromosomen liegen. Nahe bei einander liegende Gene werden oft gekoppelt weitervererbt

Humangenetik basics

Mukoviszidose Vererbung
Autosomal-rezessiv

Humangenetik basics

Lyon-Hypothese
Nach Befruchtung, in einem frühen Stadium der Zellteilung: Inaktivierung jeweils eines X-Chromosoms in jeder Zelle

Humangenetik basics

 Hämophilie, auch „Bluterkrankheit“ Vererbungsgang
X-chromosomal rezessiv

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