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Detection of Mutational Frequency in Human Bone Marrow

Description of Invention:
To date there have been no adequate methods to determine the frequency of mutations in humans. This invention discloses a method of measuring the mutational frequency of a mitochondrial DNA sequence by sequencing mitochondrial DNA from clonally expanded single cells such as CD34+ human stem cells. Sequencing for mitochondrial DNA polymorphisms and mutations may also be useful as a general method to detect minimal residual disease in leukemia. The mitochondrial genome is particularly susceptible to mutations and these may be used to measure genomic mutagenesis by virtue of comparison. The application of this invention includes the determination of mutational frequency after chemotherapy, radiation, environmental toxic exposure and genetic disease. The invention also provides a screening for an agent that has a mutagenic effect on a cell.

Inventors:
Neal S. Young et al. (NHLBI)

Patent Status:
DHHS Reference No. E-320-2002/0 --
U.S. Provisional Application No. 60/424,515 filed 06 Nov 2002

DHHS Reference No. E-320-2002/1 --
U.S. Patent Application No. 10/704,283 filed 06 Nov 2003

Portfolios:
Cancer

Cancer -Diagnostics


For Additional Information Please Contact:
Fatima Sayyid M.H.P.M.
NIH Office of Technology Transfer
6011 Executive Blvd, Suite 325
Rockville, MD 20852-3804
Phone: (301) 435-4521
Email: sayyidf@mail.nih.gov
Fax: (301) 402-0220


Web Ref: 755

Updated: 7/03

 

 
 
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