Wissenschaftliche Information:

Zusammenfassung: Das Gen kodiert Renin, einem wichtigen Aktivator des Angiotensinogens. Neben dieser Blutdruck und den Salzhaushalt regulierenden Funktion hat das Renin noch eine wichtige steuernde Funktion bei der ontogenetischen Entwicklung der Niere. Mutationen können deshalb zu einem breiten Spektrum dominanter oder rezessiver Erkrankungen der Blutdruckregulation oder Nierenfehlbildungen führen.

Methodik:

	Klinische Diagnostik	Methode		Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
		Bearbeitungszeit		25 Arbeitstage
		Aufwand		mässig
		Untersuchungsmaterial		DNA
		Qualitätssicherung		Ausschließlich interne Qualitätskontrolle
	Mit dieser Methode werden bekannte sowie auch neue Missense-, Nonsense- und Spleißmutationen entdeckt.
	Klinische Diagnostik	Methode		Familienuntersuchung
		Bearbeitungszeit		5 Arbeitstage
		Aufwand		gering
		Untersuchungsmaterial		DNA
		Qualitätssicherung		Ausschließlich interne Qualitätskontrolle
	Die Untersuchung ist nur für die in dieser Familie bekannte Mutation spezifisch.

Literatur: 

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