摘要:
A method for determining a predisposition of a patient to the development of muscular diseases and/or to changed biotransformation in a treatment of the patient with atorvastatin is disclosed. The presence of at least one single nucleotide polymorphism (SNP) in the UGT1A3 gene (uridine diphosphate glucuronosyltransferase gene 1A3) and/or an increased UGT1A3 gene expression is determined in a biological sample of the patient. The disclosure further relates to oligonucleotides that can be used in the method and to diagnostic kits that use the oligonucleotides.
摘要:
A method for determining a predisposition of a patient to the development of muscular diseases and/or to changed biotransformation in a treatment of the patient with atorvastatin is disclosed. The presence of at least one single nucleotide polymorphism (SNP) in the UGT1A3 gene (uridine diphosphate glucuronosyltransferase gene 1A3) and/or an increased UGT1A3 gene expression is determined in a biological sample of the patient. The disclosure further relates to oligonucleotides that can be used in the method and to diagnostic kits that use the oligonucleotides.
摘要:
Described are general means and methods of diagnosing and treating the phenotypic spectrum as well as the overlapping clinical characteristics with several forms of inherited abnormal expression and/or function of the CYP2B6 genes. In particular, polynucleotides of molecular variant CYP2B6 genes which, for example, are associated with insufficient metabolization and/or sensitively of drugs, and vectors comprising such polynucleotides are provided. Furthermore, host cells comprising such polynucleotides or vectors and their use for the production of variant CYP2B6 proteins are described. In addition, variant CYP2B6 proteins and antibodies specifically recognizing such proteins as well as transgenic non-human animals comprising the above-described polynucleotide or vectors are provided. Described are also methods for identifying and obtaining inhibitors for therapy of disorders related to the malfunction of the CYP2B6 gene as well as methods of diagnosing the status of such disorders. Pharmaceutical and diagnostic compositions useful for diagnosing and treating various diseases with drugs that are substrates, inhibitors or modulators of the CYP2B6 gene product are described as well.
摘要:
The present invention relates to a test system containing cell lines expressing human cytochrome P450 2D6 as well as to the use of said test system for the study of pharmacological and toxicological aspects of the hCYP2D6 polymorphism. The present invention further relates to methods for the detection of novel polymorphic forms of human cytochrome P450 2D6 using the test system according to the invention as well as to methods for the simple and exact quantification of the cytochrome P450 content using CO difference spectra.
摘要:
The present invention relates to means and methods of diagnosing and treating the phenotypic spectrum as well as the overlapping clinical characteristics with several forms of inherited abnormal expression and/or function of the CYP2D6 gene. In particular, the present invention relates to polynucleotides of molecular variants of the CYP2D6 gene, which for example, are associated with abnormal drug response and disorders caused by altered activity of the CYP2D6 enzyme, and vectors comprising these polynucleotides. Furthermore, the present invention relates to host cells comprising such polynucleotides or vectors. The invention also relates to a transgenic non-human animal. Furthermore, kits comprising oligonucleotides hybridizing to the CYP2D6 gene useful for the diagnosis of an altered activity of the CYP2D6 enzyme are provided. In addition, the invention relates to methods for diagnosing a polynucleotide associated with an intermediate metabolizer phenotype of CYP2D6 drugs.
摘要:
Provided are polynucleotides of molecular variant promoters of the CYP2D6 gene which, for example, are associated with abnormal drug response or individual predisposition to several common diseases and disorders caused by drug under- or over-metabolization, and vectors comprising such polynucleotides. Furthermore, methods of diagnosing the status of disorders related to intermediate metabolization of drugs are described. In addition, kits comprising oligonucleotides hybridizing to the CYP2D6 promoter and/or being capable of being extended into this region useful for diagnosing subjects that are ultrarapid or intermediate metabolizer of drugs are provided.
摘要:
Provided are polynucleotides of molecular variant promoters of the CYP2D6 gene which, for example, are associated with abnormal drug response or individual predisposition to several common diseases and disorders caused by drug under- or over-metabolization, and vectors comprising such polynucleotides. Furthermore, methods of diagnosing the status of disorders related to intermediate metabolization of drugs are described. In addition, kits comprising oligonucleotides hybridizing to the CYP2D6 promoter and/or being capable of being extended into this region useful for diagnosing subjects that are ultrarapid or intermediate metabolizer of drugs are provided.