POLYMORPHISM IN HUMAN MDR-1 GENE AND USE THEREOF IN DIAGNOSTIC AND THERAPEUTIC APPLICATIONS

摘要

PROBLEM TO BE SOLVED: To provide 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 Multi Drug Resistance-1 (MDR-1) gene.

SOLUTION: There are provided the polynucleotide of a molecular variant MDR-1 gene which is associated with uptake of drugs by a target cell, and the vector comprising such the polynucleotide. Furthermore, the host cell comprising such the polynucleotide or vector and the use thereof for the production of variant MDR-1 proteins are also provided. In addition, the variant MDR-1 protein and the antibody specifically recognizing such the protein as well as the transgenic non-human animal comprising the polynucleotide or the vector are provided. The method for identifying and obtaining inhibitors for therapy of disorders related to the multifunction of the MDR-1 gene as well as the method for diagnosing the status of such disorders are provided. The method for diagnosing such the disease, and the pharmaceutical composition are also provided.

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