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Positionelle Identifizierung der Krankheitsgene bei idiopathisch generalisierten Epilepsien by Askari, Hossein

Positionelle Identifizierung der Krankheitsgene bei idiopathisch generalisierten Epilepsien

by Hossein Askari
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Book cover type: Paperback
  • ISBN13: 9783640678044
  • Binding: Paperback
  • Subject: N/A
  • Publisher: Grin Verlag
  • Publisher Imprint: Grin Verlag
  • Publication Date:
  • Pages: 84
  • Original Price: USD 67.5
  • Language: German
  • Edition: N/A
  • Item Weight: 123 grams
  • BISAC Subject(s): Life Sciences / Genetics & Genomics

Diplomarbeit aus dem Jahr 2008 im Fachbereich Biologie - Genetik / Gentechnologie, Note: 1,0, Universität zu Köln (Institut für Genetik), Sprache: Deutsch, Abstract: In dieser Arbeit wurden durch eine VAPSE (variants affecting protein structure or expression)- basierte Strategie acht Kandidatengene für die Untersuchung der neurologischen Krankheitsgruppe "idiopathische Epilepsien" sequenziert. Die hierbei identifizierten Variationen wurden mittels in silico Analysen bewertet und gegenüber häufigen Sequenzvarianten in der Population abgegrenzt. Bei der anschlie enden familiären Kosegregationsanalyse konnte eine neue nicht-synonyme Variante (c.920G>A, p.Arg307His) im Gen CACNA1I identifiziert werden, die eventuell zur Epilepsie führt. Durch eine Fall-Kontroll-Assoziationsstudie konnte weiterhin die Assoziation des durch Sequenzierung identifizierten SNPs rs1130183 im Gen KCNJ10 mit IGE bestätigt werden. Genetisch determinierte Funktionsstörungen von Ionenkanälen spielen eine zentrale Rolle bei der Entstehung von monogenen Epilepsien und erlauben erste konkrete Einblicke in kritische Schlüsselstellen der molekularen Epileptogenese. Um die wichtigsten genetischen Risikofaktoren umfassend aufzudecken, sind hinreichend gro e Studienkollektive von mehreren tausend Einzelfällen und mehreren hundert Multiplex-Familien erforderlich. Insbesondere genomweite, hochauflösende Assoziationsstudien eröffnen eine aussichtsreiche Perspektive, die häufigsten epileptogenen DNA-Varinaten systematisch zu erfassen und deren interaktives Zusammenspiel bei der Epileptogenese zu ermitteln. Weitere Impulse für die Epilepsie-Genetik sind durch das US-amerikanische ″Human Channelopathy Project″ zu erwarten, dass derzeit eine Sequenzanalyse von 250 neuronalen Ionenkanal-Genen bei 500 Patienten mit idiopathischen Epilepsien und 500 gesunden Populationskontrollen durchführt. Sequenzsanalyse von Kandidatengenen ist eine aussichtvolle Strategie zur Identifizierung der krankheitsverursachenden Variati

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