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Útgefiđ gćđaskjal: Leiđbeiningar
Skjalnúmer: Rklín-534
Útg.dags.: 01/24/2019
Útgáfa: 3.0
2.02.03.02.01 Fibrinogen- Rezeptor-Gen

Samheiti: CD61, GP3A, Integrin beta 3 (platelet glycoprotein IIIa), Integrin beta-3 precursor (platelet membrane glycoprotein IIIa, GPIIIa, CD61)
Hide details for Sýnataka, geymsla og sýnasending Sýnataka, geymsla og sýnasending
Gerđ sýnis : EDTA-blóđ.
Sýni tekiđ í glas međ fjólubláum tappa án gels (svört miđja) . Litakóđi samkvćmt Greiner.

Magn: 5 mL (2,7 duga)
Geymsla sýnis: Stofuhiti.
Sýnasending: Hrađsending til útlanda.
Hide details for Pöntunarkóđi í FlexLabPöntunarkóđi í FlexLab
ANNAĐUT

Beiđni: 4a anforderungsschein_4a.pdfanforderungsschein_4a.pdf eđa 3b anforderungsschein_3b.pdfanforderungsschein_3b.pdf Blađ sem samţykki fyrir rannsókn međ undirskrift sjúklings ţarf ađ fylgja međ. Declaration of consent Labor Volkmann.pdfDeclaration of consent Labor Volkmann.pdf
Hide details for Heiti tilvísunarannsóknastofu og heimilisfangHeiti tilvísunarannsóknastofu og heimilisfang
MVZ Labor PD Dr. Volkmann und Kollegen GbR
Kriegsstrasse 99
76133 Karlsruhe

Tel:  0721 85000-0
Fax: 0721 85000-199

www.laborvolkmann.de
E-Mail:
 labor@laborvolkmann.de
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 Fibrinogen-Rezeptor-Gen

OMIM 607759
  
Synonyma CD61, GP3A, Integrin beta 3 (platelet glycoprotein IIIa), Integrin beta-3 precursor (platelet membrane gycoprotein IIIa, GPIIIa, CD61)
  
Material EDTA-Blut, 2,7 mL (Blutbildröhrchen)
  
Einwilligungserklärung Einwilligungserklärung Genetik
  
Methode NAA, Genotypnachweis durch spezifische Fluoreszenzsonden.
  
Siehe auch Humangenetik - Zytogenetik
  
Anforderungsschein Anforderungsschein Nr. 4a Position der Analyse
Anforderungsschein Anforderungsschein Nr. 3b Position der Analyse
  
Auskünfte Molekulare Humangenetik


Humangenetik, Symptome, Indikationen


20170210T100549.pdf20170210T100549.pdf
Fróđleikur:
Platelets are integral to normal haemostatic function and act to control vascular haemorrhage with the formation of a stable clot. The fibrinogen receptor (glycoprotein IIb/IIIa [GPIIb/IIIa]) is the most abundant platelet integrin and, by binding fibrinogen, facilitates irreversible binding of platelets to the exposed extracellular matrix and enables the cross-linking of adjacent platelets. The vital role of GPIIb/IIIa requires tight control of both its synthesis and function. After transcription from distinct domains on chromosome 17, the two subunits of the heterodimer are carefully directed through organelles with intricate regulatory steps designed to prevent the cellular expression of a dysfunctional receptor. Similarly, exquisite control of platelet activation via bidirectional signalling acts to limit the inappropriate and excessive formation of platelet-mediated thrombus. However, the enormous diversity of genetic mutations in the fibrinogen receptor has resulted in a number of allelic variants becoming established. The Pro(33) polymorphism in GPIIIa is associated with increased cardiovascular risk due to a pathological persistence of outside-in signalling once fibrinogen has dissociated from the receptor. The polymorphism has also been associated with the phenomenon of aspirin resistance, although larger epidemiological studies are required to establish this conclusively. A failure of appropriate receptor function due to a diverse range of mutations in both structural and signalling domains, results in the bleeding diathesis Glanzmann's thrombasthaenia.



Ritstjórn

Ingibjörg Loftsdóttir
Sigrún H Pétursdóttir
Guđmundur Sigţórsson
Kristín Sigurgeirsdóttir

Samţykkjendur

Ábyrgđarmađur

Ísleifur Ólafsson

Útgefandi

Sigrún H Pétursdóttir

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