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Complex genetic architectures: Some common symptoms of trisomy 21
Date:6/26/2013

Down syndrome, more commonly known as "trisomy 21" is very often accompanied by pathologies found in the general population: Alzheimer's disease, leukemia, or cardiac deficiency. In a study conducted by Professor Stylianos Antonarakis' group from the Faculty of Medicine of the University of Geneva (UNIGE), researchers have identified the genomic variations associated with trisomy 21, determining the risk of congenital heart disease in people with Down syndrome. The targeted and specific study of chromosome 21 revealed two genomic variations, which, in combination, are the hallmark of hereditary cardiac deficiency. These results are being published in the journal Genome Research and add to other research conducted by the same team about chronic myeloid leukemia, a severe form of leukemia that often affects people with Down syndrome. The journal Blood is publishing these advances in the understanding of a disease which, like hereditary cardiac deficiencies or early Alzheimer's, affects the general population.

Heart disease is a common disorder of Down syndrome. While the presence of a third gene in the n21 pair (which characterizes the disease) increases the risk of heart disease, it is not the sole cause: genetic variationsor polymorphismsas well as certain environmental factors also contribute to it. Genetic variations create the diversity of human beings, their predispositions, and the differences in the expression of similar genes.

Variations increase the risk of hereditary cardiac deficiency

As part of a study carried out on the risk of congenital heart disease in people with Down syndrome, the geneticists led by Stylianos Antonarakis who conducts the research at UNIGE's Department of Genetic and Developmental Medicine observed the dominating role of two types of polymorphisms: the nucleotide (SNP, which stands for single-nucleotide polymorphism) and the variability in the number of copies of a gene (CNV, which stands f
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Contact: Stylianos Antonarakis
stylianos.antonarakis@unige.ch
41-223-795-708
Universit de Genve
Source:Eurekalert

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