ATP7B gene mutations associated with incidence of Wilson disease in Croatian population

Ljubić, Hana (2013) ATP7B gene mutations associated with incidence of Wilson disease in Croatian population. Doctoral thesis, Faculty of Science > Department of Biology.

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Abstract

Wilson disease is a rare autosomal recessive inherited disorder of copper metabolism, with ATP7B gene mutation carrier frequency of approximately 0,56% in general population. In most cases this disease is characterized by liver, neurological, psychiatrical symptoms or the combination of above mentioned. If the disease is not treated, it has fatal consequences. Because of certain number of patients presenting with atypical clinical symptoms and normal values of copper laboratory tests, genetic analysis is an important step in establishing diagnosis of disease. If in individual's both ATP7B alleles mutations are detected, medical treatment is supposed to start immediately, because this person is considered as affected. In this study of croatian population the analysis of ATP7B gene coding region by sequencing method has been performed for the first time and it has become routine diagnostic procedure. In total number of 76 individuals with suspected diagnosis of Wilson disease, in 59 of them the diagnosis has been confirmed on genetic level. Results of this study confirm that mutation p.His1069Gln is the most frequent in Croatian population, and also 17 other mutations in ATP7B gene have been detected, some of them frequent in central and eastern Europe.

Item Type: Thesis (Doctoral thesis)
Keywords: Wilson disease, ATP7B gene, genotyping, mutation frequency, sequencing method
Supervisor: Sertić, Jadranka and Kalauz, Mirjana
Date: 2013
Number of Pages: 97
Subjects: NATURAL SCIENCES > Biology
Divisions: Faculty of Science > Department of Biology
Depositing User: Silvana Šehić
Date Deposited: 29 Sep 2014 11:09
Last Modified: 29 Sep 2014 11:09
URI: http://digre.pmf.unizg.hr/id/eprint/2856

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