| The screening for ATP7B
gene mutations, is an important analysis in the early
diagnosis of Wilson's
Disease, an inherited
disorder that causes copper poisoning of the liver and the brain.
The copper transporting ATPase ATP7B has been recognized as the
defective gene in Wilson's Disease. Many individual
mutations in the protein coding exons of this gene, as well as in
intron sequences, have been reported in patients
suffering from the disease. One mutation in exon 14 (His1069Gln)
is reported in a majority of cases in Europe.
When suspecting Wilson's Disease,
we routinely amplify and sequence exon 14
from the genomic DNA of the patient. When exon 14 is free of
mutations, we screen the remaining 20 protein-coding exons of
ATP7B for mutations. The mutation frequency is depending on the
ethnic background of the patient. We usually provide results of the screening of
the above-mentioned exons and their flanking intron sequences within 10 days after
receipt of the sample.
When a mutation is found, we
recommend analyzing the ATP7B genes of the patient's parents or
other relatives as a secondary confirmation, and to
detect the carrier of the gene defect.
|
| The recommended source for
genomic DNA is EDTA-blood. A typical sample
volume is 0.5 ml. Blood samples can be sent to us at ambient
temperature. Other sources may also be considered
for analysis (e.g. prenatal samples, tissue
biopsies or paraffin embedded material).
|
| Please
contact us for an estimate
for the analysis of the ATP7B gene of your patient.
|
| Wilson's Disease
screening is conducted in cooperation with Heyl
Chem.-pharm. Fabrik,
Berlin, Germany. |
|
Analysis
example Wilson's Disease:
Molecular biological
detection of rare heriditary diseases. The screening of
genes for mutations.
poster in PDF format |
|
