| GOJOVA, Lucie, Eva JANSOVA, Maigi KULM, Slavka POUCHLA a Libor KOZÁK. Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease. Clinical Genetics. Denmark: Blackwell Munksgaard, 2008, roč. 73, č. 5, s. 441-52, 12 s. ISSN 0009-9163. |
Další formáty:
BibTeX
LaTeX
RIS
@article{768935,
author = {Gojova, Lucie and Jansova, Eva and Kulm, Maigi and Pouchla, Slavka and Kozák, Libor},
article_location = {Denmark},
article_number = {5},
keywords = {Wilson chip; microarrays; Wilson disease; APEX technology; ATP7B gene},
language = {eng},
issn = {0009-9163},
journal = {Clinical Genetics},
title = {Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease},
volume = {73},
year = {2008}
}
TY - JOUR
ID - 768935
AU - Gojova, Lucie - Jansova, Eva - Kulm, Maigi - Pouchla, Slavka - Kozák, Libor
PY - 2008
TI - Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease
JF - Clinical Genetics
VL - 73
IS - 5
SP - 441-52
EP - 441-52
PB - Blackwell Munksgaard
SN - 00099163
KW - Wilson chip
KW - microarrays
KW - Wilson disease
KW - APEX technology
KW - ATP7B gene
N2 - Wilson disease (WD) is an autosomal recessive inherited disorder of copper metabolism, which is caused by mutations in the ATP7B gene. To date, more than 300 mutations have been described in this gene. Molecular diagnostics of Wilson disease utilizes restriction enzyme digestion, MLPA or a direct sequencing. To simplify and speed up the screening of ATP7B mutations, we have developed a genotyping microarray for the simultaneous detection of 87 mutations and 17 polymorphisms in the ATP7B gene based on the arrayed primer extension reaction (APEX). The Wilson microarray was validated by screening 97 previously genetically confirmed WD patients. In total, we detected 43 mutations and 15 polymorphisms, which represent a majority of the common mutations occurring in the Czech and Slovak populations. The Wilson chip appears to be a rapid, sensitive and cost-effective tool for the first line screening of potential WD patients.
ER -
GOJOVA, Lucie, Eva JANSOVA, Maigi KULM, Slavka POUCHLA a Libor KOZÁK. Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease. \textit{Clinical Genetics}. Denmark: Blackwell Munksgaard, 2008, roč.~73, č.~5, s.~441-52, 12 s. ISSN~0009-9163.
|
