Novel Cytochrome P450 (CYP) 2D6 Gene and CYP2D7 Pseudogene Arrangements and Tests for Detection of These Newly Discovered Gene Arrangements

Reference #:

2007-032

Inventors/Contributors

John L. Black, III M.D., Dennis J. O'Kane Ph.D., David A. Mrazek M.D.

Description

The CYP2D6 gene makes a protein that metabolizes drugs. This gene is highly variable. It can have different amino acids in various positions; it can be deleted; it can be partly deleted; it can be duplicated and it can have other changes that alter the way the gene works. Tests are available for all of these changes. However, some individuals have genes that cannot be tested and give unusual readings on standard testing platforms. We have discovered that some of these individuals have a gene that is created by a heretofore unrecognized crossover between chromosomes. This crossover creates two new arrangements. One arrangement is a blend of CYP2D6 and CYP2D7, has a CYP2D7 upstream of it and is followed by a sequence usually seen only in CYP2D6*5. The other gene is a blend of CYP2D7 and CYP2D6 and it has no upstream CYP2D76 sequence. We describe a test for these arrangements.

Patent Status

Pending