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Since the completion of the Human Genome
Project in the year 2001 and the publication of the results, it is
possible to screen most human genomic sequences for mutations and
polymorphisms.
Sequence comparison of patient and control
groups often supplies information on those changes in the genomic DNA that
cause a disease or a disposition to disease.
For many inherited disorders, the gene
involved and the disease causing mutations are known today. This knowledge
is the result of many years of research and the cooperation of many
international scientists. Nearly every day, new disease causing changes in
the human genome are published.
When a physician suspects a genetic
disease, he can send a small blood sample of his patient to a test
laboratory to have his suspect reliably confirmed. |
The way a gene test is being performed is
often the same for different genetic diseases. To illustrate a genetic
analysis process, the following poster is presented.
Here, the different steps in the molecular
biological analysis of the ATP7B gene is documented. Mutations in this
gene are the cause of Wilson’s disease, a disorder of the copper
metabolism.
poster in PDF format (Poster_WilsonD_English_310501)
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