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

Autori
Ljubić, Hana ; Sertić, Jadranka ; Božina, Tamara ; Kalauz, Mirjana ; Vucelić , Boris

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Abstracts of the 21st International Congress of Clinical Chemistry and Laboratory Medicine, U: Clin Chem Lab Med 2011 ; 49, Special Suppl, pp S1 – S874 / Plebani, Mario - Berlin : Walter de Gruyter, 2011, 512-512

Skup
21st International Congress of Clinical Chemistry and Laboratory Medicine

Mjesto i datum
Berlin, Njemačka, 15.05.2011. - 19.05.2011

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Wilson disease ; gene mutations

Sažetak
Background. Wilson disease (WD) is an autosomal recessive disorder of copper metabolism resulting from the absence or dysfunction of copper transporting P-type ATPase (ATP7B). More than 400 disease causing mutations of the ATP7B gene have been identified to date. Methods. Genomic DNA was used to amplify 21 exons of the ATP7B gene. Sequencing analysis was performed by PCR and capillary electrophoresis with BigDye Terminator v3.1 kit on AB Genetic analyzer 3130xl. Results. Here we report results of sequencing analysis of the ATP7B gene. We have analyzed coding region of the ATP7B gene of clinically diagnosed WD patients from Croatia, already screened for the most common His1069Gln mutation. It accounts for 54, 4% of Wilson disease alleles in croatian population. Out of the total number of 71 tested patients with WD, molecular analysis has confirmed the clinical diagnosis in 44 patients (61, 9%) so far. 17 (23, 9%) patients are homozygous for the most common His1069Gln mutation. In 13 patients (18, 4%) only one mutation has been identified. Mutations in croatian population are mostly distributed in exons 5, 8, 13, 14, 15 and 21 of the ATP7B gene. Conclusions. Sequencing analysis of the ATP7B gene is the best method to establish the frequency of mutations in specific population so the screening test panel for most common mutations can be developed for this population.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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