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Stem Cell Related Patent Number US5824501
| Title: | Nucleic acids of the bloom's syndrome gene | | Inventors: | Ellis, Nathan A.; New York, NY, USA
German, James; New York, NY, USA
Groden, Joanna; Cincinnati, OH, USA | | Summary: | This invention introduces a method for diagnosing Bloom's syndrome (BS) and carriers thereof, via a process of detecting mutant BLM genes. Described herein are one or more single-stranded nucleic acid probes and antibodies which may be formulated in kits and used for diagnosing BS or for determining whether a subject is a carrier of a mutated BLM gene. Further disclosed is a purified and isolated nucleic acid encoding an enzymatically active BLM protein, a vector comprising this nucleic acid, a cell stably transformed with this vector, and a method for producing a recombinant, enzymatically active BLM protein. Also provided is an embryonic stem cell and a nonhuman transgenic mammal, both of which comprise a mutated BLM gene. Therapeutic applications in gene thereapy are included for the use of such a nucleic acid encoding the active BLM protein in the general treatment of cancer and in the specific treatment of Bloom's syndrome. | | Abstract: | The present invention provides a method for diagnosing BS as well as determining whether a subject is a carrier of a mutated BLM gene. The present invention also provides one or more single-stranded nucleic acid probes and antibodies which may be formulated in kits, and used for diagnosing BS or determining whether a subject is a carrier of a mutated BLM gene. In addition, the present invention provides a method for treating or preventing the onset of BS in a subject in need of such treatment or prevention, as well as vectors and stem cells useful for such treatment or prevention. The present invention also provides a purified and isolated nucleic acid encoding an enzymatically active BLM protein, a vector comprising this nucleic acid, a cell stably transformed with this vector, as well as a method for producing recombinant, enzymatically active BLM protein. A purified, enzymatically active BLM protein is also provided by the present invention. Finally, the present invention provides a vector, an embryonic stem cell, and a non-human, transgenic animal, each of which comprises a mutated BLM gene, as well as a method for producing the non-human, transgenic animal. | | US Patent Website: | Click Here for Full Text of Patent | | Title Number: | US5824501 | | Application Number: | US1995000559303 | | Date Filed: | 15/11/1995 | | Date Published: | 20/10/1998 | | Assignee: | New York Blood Center, New York, NY, USA
University of Cincinnati, Cincinnati, OH, USA |
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