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Genomic Imbalances in Congenital Heart Defects

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Genomic Imbalances in Congenital Heart Defects

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Samenvatting

The heart is one of the
most important organs and also one of the first to function during embryonic
development. The blood circulation is necessary to life and so is the heart,
allowing oxygen-rich blood to circulate from the lungs to the body and low-oxygen
blood from the body to the lungs again. As our understanding of the embryonic
development steps grows, we now know that problems can occur during these
early stages which can cause congenital heart defects (CHD). These problems can
also be caused by a chromosomal aberration, for instance on one of genes
regulating heart formation. It is now possible to screen the entire genome for
genomic imbalances. Indeed some novel heart genes were discovered in the
genomes of patients with CHD and additional symptoms. Our goal in this research
report will be to investigate those genes and to determine the accurate areas
which are affected. Moreover, our aim is to investigate which technique would be
better to use in order to get these results and finally what are the expression
patterns of these genes and see if they can be related to the patient phenotypes.
We would like to answer to these questions, by using common techniques. Two
different approaches were used: qPCR (quantitative Polymerase Chain Reaction) in
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the genomic imbalances research shows interesting results although it probably
needs more optimization. Indeed most of the qPCR experiments were accurate,
but some of them were difficult to analyse. The second approach was the use of In
Situ Hybridization (ISH) to determine the gene expression patterns, and this also
gave good results, as most of the studied genes seem to be expressed in the heart.
If these expressions can be related to the patient phenotypes this would open a
lot of future perspectives and experiments. However these results first need to be
checked in order to be sure of their reliability.

Toon meer
OrganisatieHZ University of Applied Sciences
OpleidingChemie
InstituutAcademie voor Technologie & Innovatie
PartnersAMC Amsterdam
Gepubliceerd in
Datum2010-07-05
TypeBachelorscriptie
TaalEngels

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