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Molecular Analysis of Wilson Disease


Authors: S. Vrábelová;  P. Váňová;  L. Kopečková;  P. Trunečka 1;  V. Smolka 2;  D. Procházková;  Š. Vejvalková 3;  A. Šuláková 4;  V. Kupčová 5;  V. Bzdúch 6;  L. Kozák
Authors‘ workplace: Výzkumný ústav zdraví dítěte, oddělení biochemické a molekulární genetiky, Brno 1Institut klinické a experimentální medicíny, Praha 2Fakultní nemocnice. Olomouc 3Ústav biologie a lékařské genetiky FNM, Praha 4Klinika dětského lékařství FNsP, Ostrava-Porub
Published in: Čas. Lék. čes. 2002; : 642-645
Category:

Overview

Background.
Wilson disease is an autosomal recessive disorder, characterized by cooper accumulation andintoxication of the organism. Molecular basis of the disease represent mutations in the gene for the copper-transportingATPase (ATP7B).Methods and Results. The submitted paper deals with results of molecular-genetic examination in 130 unrelatedfamilies in whichWilson disease was diagnosed. By denaturing gradient gel electrophoresis (DGGE), the exons withabnormal sequences were detected. Followed by sequencing, 17 causal mutations and 9 silent polymorphism werefound. Five novel mutations were detected. After analysis of 260 mutant alleles, 214 (82.3 %) were identified. Themost frequent mutation, H1069Q, occurred in our population with the frequency of 65.8 %. Incidence of othermutations, however, did not exceed 5 %.Conclusions. DNA analysis of the Wilson disease offers prompt and reliable results in affected families. It canhelp to identify asymptomatic and heterozygote siblings at genetic counselling.

Key words:
Wilson disease, ATP7B gene, mutation, DNA diagnosis.

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Addictology Allergology and clinical immunology Angiology Audiology Clinical biochemistry Dermatology & STDs Paediatric gastroenterology Paediatric surgery Paediatric cardiology Paediatric neurology Paediatric ENT Paediatric psychiatry Paediatric rheumatology Diabetology Pharmacy Vascular surgery Pain management Dental Hygienist
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