Mechanisms of CNV formation and their effect on the human health

Šašek, Ivana (2015) Mechanisms of CNV formation and their effect on the human health. Bachelor's thesis, Faculty of Science > Department of Biology.

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Abstract

Structural variations of the genome contribute to the diversity of individuals and can be unstable, such as copy-number variations (CNV), or stable, such as reciprocal translocations. CNVs are segments of DNA ranging from one kilobase to several megabases in size. Deletions, duplications, insertions and translocations may be the cause of these variations. The aim of this review is to explain the mechanisms of CNV formation and their consequences on human health. The most important mechanisms are nonallelic homologus recombination (NAHR), nohomologus end joining (NHEJ) and replicative mechanisms. Depending on the type of the mechanism that CNVs are formed by, they are divided into two major categories: recurrent CNVs and non-recurrent CNVs. CNVs are associated with the occurrence of the diseases in the immune and nervous systems. Most of the research has been done in patients that suffer from autoimmune diseases, schizophrenia and autism. With the development of new methods and technologies, the role of CNVs in the occurrence of different diseases will be experimentally confirmed, and molecular mechanisms of their formation will allow the development of gene therapies.

Item Type: Thesis (Bachelor's thesis)
Supervisor: Korać, Petra
Date: 2015
Number of Pages: 18
Subjects: NATURAL SCIENCES > Biology
Divisions: Faculty of Science > Department of Biology
Depositing User: Silvana Šehić
Date Deposited: 11 Mar 2016 11:06
Last Modified: 11 Mar 2016 11:06
URI: http://digre.pmf.unizg.hr/id/eprint/4588

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