Abstract: Methods for detecting variant genes having a polymorphism associated with reduced metabolism of a substrate selected from the group consisting of a CYP3A4 substrate, a CYP3A5 substrate and a GSTM1 substrate in an individual are disclosed. The methods are genotyping methods to identify specific polymorphisms which have been found to be associated with reduced metabolism of chemotherapeutic agents, such as cyclophosphamide and BCNU. Also disclosed are novel polymorphic nucleic acid molecules useful in the methods of the invention.

Abstract: The present invention provides methods and materials to identify genetic abnormalities that predispose an individual to ion-channel diseases. The invention provides four polymorphic sites in the KCNQ1 gene that cause reduced conductance of the associated potassium ion channel current and a variant form of the KCNE1 gene which causes decreased conductance though the channel. The variant form of KCNE1 also acts synergistically with variants of KCNQ1 to cause further decreased conductance than either variant alone. The invention further provides polymorphisms in ion channel genes showing a higher frequency in populations afflicted with ion channel diseases or within control groups. The detection of these polymorphic sites that produce the potassium ion channel protein variants in either heterozygous or homozygous form in a subject indicates that the subject has, or is susceptible to, ion channel diseases such as congenital or acquired cardiac arrhythmia, LQT syndrome, SIDS, epilepsy, or hearing loss.

Abstract: Disclosed are novel polymorphisms in the human cytochrome P450 2A6 gene and the use of those polymorphisms as predictive sequences for altered metabolism or occurrence of disease.

Abstract: Disclosed are novel polymorphisms in the human cytochrome P450 2A6 gene and the use of those polymorphisms as predictive sequences for altered metabolism or occurrence of disease.

Abstract: The present invention relates to methods of detecting a polymorphism in a gene encoding xenobiotic metabolizing enzyme CYP2D6. The methodology disclosed is robust and can detect the presence of the wildtype and polymorphic sequences in the presence of gene duplication and gene conversion events.

Abstract: The present invention provides methods and materials to identify genetic abnormalities that predispose an individual to ion-channel diseases. The invention provides four polymorphic sites in the KCNQ1 gene that cause reduced conductance of the associated potassium ion channel current and a variant form of the KCNE1 gene which causes decreased conductance though the channel. The variant form of KCNE1 also acts synergistically with variants of KCNQ1 to cause further decreased conductance than either variant alone. The invention further provides polymorphisms in ion channel genes showing a higher frequency in populations afflicted with ion channel diseases or within control groups. The detection of these polymorphic sites that produce the potassium ion channel protein variants in either heterozygous or homozygous form in a subject indicates that the subject has, or is susceptible to, ion channel diseases such as congenital or acquired cardiac arrhythmia, LQT syndrome, SIDS, epilepsy, or hearing loss.

Abstract: Disclosed are novel polymorphisms in the human cytochrome P450 2A6 gene and the use of those polymorphisms as predictive sequences for altered metabolism or occurrence of disease.

Abstract: Genetic polymorphisms are identified in the human STP2 gene that alter STP2-dependent drug metabolism. Nucleic acids comprising the polymorphic sequences are used to screen patients for altered metabolism for STP2 substrates, potential drug-drug interactions, and adverse/side effects, as well as diseases that result from environmental or occupational exposure to toxins. The nucleic acids are used to establish animal, cell and in vitro models for drug metabolism.

Abstract: Methods for detecting variant genes having a polymorphism associated with reduced metabolism of a substrate selected from the group consisting of a CYP3A4 substrate, a CYP3A5 substrate and a GSTM1 substrate in an individual are disclosed. The methods are genotyping methods to identify specific polymorphisms which have been found to be associated with reduced metabolism of chemotherapeutic agents, such as cyclophosphamide and BCNU. Also disclosed are novel polymorphic nucleic acid molecules useful in the methods of the invention.

Abstract: Genetic polymorphisms are identified in the human CYP3A4 gene that alter CYP3A4-dependent drug metabolism. Nucleic acids comprising the polymorphic sequences are used to screen patients for altered metabolism for CYP3A4 substrates, potential drug-drug interactions, and adverse/side effects, as well as diseases that result from environmental or occupational exposure to toxins. The nucleic acids are used to establish animal, cell and in vitro models for drug metabolism.

Abstract: Disclosed are novel polymorphisms in the human cytochrome P450 2A6 gene and the use of those polymorphisms as predictive sequences for altered metabolism or occurrence of disease.

Abstract: Genetic polymorphisms are identified in the human STP2 gene that alter STP2-dependent drug metabolism. Nucleic acids comprising the polymorphic sequences are used to screen patients for altered metabolism for STP2 substrates, potential drug-drug interactions, and adverse/side effects, as well as diseases that result from environmental or occupational exposure to toxins. The nucleic acids are used to establish animal, cell and in vitro models for drug metabolism.

Abstract: Genetic polymorphisms are identified in the human CYP3A4 gene that alter CYP3A4-dependent drug metabolism. Nucleic acids comprising the polymorphic sequences are used to screen patients for altered metabolism for CYP3A4 substrates, potential drug-drug interactions, and adverse/side effects, as well as diseases that result from environmental or occupational exposure to toxins. The nucleic acids are used to establish animal, cell and in vitro models for drug metabolism.