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Genetic cause of congenital thrombocytopenia in a Dutch family with 2 affected individuals

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Genetic cause of congenital thrombocytopenia in a Dutch family with 2 affected individuals

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Thrombocytopenia is a condition in which your blood has a lower than normal number of platelets. This causes problems with blood clotting which can lead to severe haemorrhage (internal and external). Thrombocytopenia can be caused by different factors like toxic chemicals, medicines, viruses but can also be inherited. Some genetic disorders can cause a low number of blood platelets like for example Wiskot-Aldrich syndrome. Multiple studies have shown that there are several genes, besides WAS, involved in the development of thrombocytopenia, like the RUNX1 and MPL gene.
In a Dutch family 2 sisters were born with severe thrombocytopenia. To determine the genetic cause of their congenital thrombocytopenia they were tested for mutations in the RUNX1 and WAS genes using the Sanger sequencing method. Unfortunately no mutations were found.
In the current project Sanger sequence analysis was set up and implemented in the diagnostic DNA laboratory of the UMC Utrecht for the MPL and THPO genes. Moreover a YouMAQ-assay was designed, set up and implemented for MPL and RUNX1 genes to analyse genomic deletions and duplications. Subsequently the two sisters were analysed for disease causing mutations and/or deletions in the MPL, THPO and RUNX1 genes. We could not detect disease causing mutations. These findings imply that, mutations in other so far unknown genes or genetic regions are responsible for the severe congenital thrombocytopenia.

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OrganisatieAvans Hogeschool
AfdelingATGM Academie voor de technologie van Gezondheid en Milieu
PartnersUMC, Location Wilhelmina Children Hospital, Utrecht; Department of Medical Genetics, section genome diagnostics
Datum2012-02
TypeBachelor
TaalEngels

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