APEX-nový přístup v molekulárně genetické diagnostice Wilsonovy choroby
| Title in English | APEX – new approach in molecular diagnostic of Wilson disease |
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| Authors | |
| Year of publication | 2007 |
| Type | Appeared in Conference without Proceedings |
| MU Faculty or unit | |
| Citation | |
| Description | In collaboration with colleagues from Asper Biotech Ltd, the genotyping microarray “Wilson chip” for screening of 87 mutations and 17 polymorphisms in ATP7B gene has been developed in our laboratory. The chip was validated in two steps. At first, we performed mutation screening of 97 WD patients with known genotypes, firstly determined by direct sequencing or enzyme restriction. We confirmed in total 44 mutations and 15 polymorphisms, which represented the majority of common mutations occurring in the Czech and the Slovak populations. The rest of mutations/polymorphisms (45) was tested using PCR fragments prepared by mutagenesis. All screened sequence variants were detected with 100% accuracy. The Wilson chip appears to be a rapid, sensitive and cost-effective tool, representing the prototype of a disease chip that facilitates and speeds up the screening of potential WD patients. |
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