Naslov
Genetic background of Wilson disease In Croatian population

Autori
Ljubić, Hana ; Juričić, Ljiljana ; Merkler, Ana ; Caban, Domagoj ; Acman Barišić, Ana ; Kalauz, Mirjana ; Telarović, Srđana ; Sertić, Jadranka

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

ISBN
978-953-57695-0-7

Skup
The Eighth ISABS Conference in Forensic, Anthropologic and Medical Genetics and Mayo Clinic Lectures in Translational Medicine

Mjesto i datum
Split, Hrvatska, 24.06.2013. - 28.06.2013

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Wilson disease ; ATP7B ; sequencing

Sažetak
Aim: Wilson disease (WD) is an autosomal recessive disorder of copper metabolism, with an incidence estimated to be one in 30, 000 in general population. It is usually characterized by liver, neurological, psychiatric symptoms, but can also present with atypical symptoms. It is characterized by significant genetic heterogeneity, which makes genetic analysis time- consuming and expensive. Because in children copper laboratory test results are often normal, genetic analysis is an important step in establishing diagnosis of disease. Methods: Genomic DNA of 76 WD index patients was extracted from peripheral blood by salting-out method. Twenty-one exons of ATP7B gene were analyzed by sequencing method on 3130XL Genetic Analyzer, using BigDye Terminator Cycle Sequencing Kit v3.1 and polymer POP-7 (Applied Biosystems). Results: Sequencing analysis of ATP7B coding region confirmed clinical diagnosis in 59 patients by detecting WD mutations in both ATP7B alleles. In 8 patients ATP7B mutations were detected only in one allele, while in 9 patients no mutations were detected. Mutation p.His1069Gln in exon 14 was the most frequent in Croatian WD patients, with allele frequency of 44.1%. 18 different ATP7B mutations in total were detected, of which mutations p.His1069Gln, p.Ala1003Thr, c.2304dupC, p.Arg616Gln and c.3402delC represent 81.7% of mutated ATP7B alleles in this population. Mutation detection rate in this study was 82.9%. Conclusion: Analysis of ATP7B gene by sequencing method is recommended in genetic diagnostics of WD because of it’s genetic heterogeneity. Diagnosis of WD on molecular genetic level is very important in cases with equivocal copper studies and/or atypical clinical presentation.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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