Gene analysis: How is it done? 
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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