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University of Duisburg-Essen

Universitaet Duisburg-Essen

Winfried Siffert

Kathrin Riemann

The invention relates to the use of gene modifications in the human gene CHK2 (CHEK2), which encodes the checkpoint kinase 2, for predicting the risk and progression of cancer diseases, for predicting the response to pharmacological or non-pharmacological therapeutic measures for treating cancer diseases, and for predicting undesired effects of drugs. The invention further relates to the provision of individual gene variants with the help of which further gene modifications that can be used for the aforementioned purposes can be detected and validated. Such gene modifications can comprise a substitution of adenine for guanine in position &#x2212;7161 in the promoter of CHK2, a substitution of guanine for cytosine in position &#x2212;7235, a substitution of adenine for guanine in position &#x2212;10532, or a deletion of 29 base pairs in positions &#x2212;10621 to &#x2212;10649.

CHK2 polymorphism as a cancer marker

The invention relates to an in vitro method for predicting disease risks, progression of diseases, drug risks, success of treatment and for finding drug targets by looking for one or more genetic modifications in the promoter region of the CHK1 (CHEK1) gene on human chromosome 11q23, the genetic modifications being a substitution thymine for guanine in position &#x2212;1143 in the promoter of CHK1, of thymine for cytosine in position &#x2212;1400, a substitution of cytosine for thymine in position &#x2212;1453 or an insertion of one cytosine in position &#x2212;1454 and the genetic modifications being detected individually or in any combinations by way of known methods.

Use of genetic modifications in human gene CHK1 which codes for checkpoint kinase 1

Use of a gene change in the gene for the G&#x3b2;3 subunit of the human G protein, at position 825 in SEQ ID No. 2 with a substitution of cytosine by thymine and/or at position 1429 in SEQ ID No. 2 there being substitution of cytosine by thymine, for determination of the risk of contracting a disease which is associated with G protein dysregulation.

Gene alteration in the gene for the G&#x3b2;3-subunit of the human G protein

The beta-3 subunit of a human G protein which consists of not more than six WD repeat motifs is described.

PTX sensitive G proteins, the production and use thereof

A method of diagnosing a disease comprising determining the presence of a genetic modification in a gene obtained from a subject which encodes a human G protein &bgr;3 subunit. Also disclosed is a method for establishing the relative risk of developing a disorder associated with G protein dysregulation.

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Essen, Germany

Winfried Siffert