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Stem Cell Related Patent Number US6221643
| Title: | Methods for diagnosis and treatment of Bloom's syndrome | | Inventors: | Ellis, Nathan; New York, NY, USA
German, James; New York, NY, USA
Groden, Joanna; Cincinnati, OH, USA | | Summary: | This invention introduces novel methods for diagnosing Bloom's Syndrome (BS) and its carriers, via the detection of mutant BLM genes. The invention relates to one or more single-stranded nucleic acid probes and antibodies which may be formulated in kits, and used either for diagnosing BS or for determining whether a subject is a carrier of a mutated BLM gene. Also provided are methods, vectors and stem cells which may be used for treating or preventing the onset of BS. 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, purified, enzymatically active BLM protein. Further claims of the invention include a vector, an embryonic stem cell, and a non-human, transgenic mammal, each of which comprise a mutated BLM gene, and methods of their production. | | 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: | US6221643 | | Application Number: | US1998000175828 | | Date Filed: | 20/10/1998 | | Date Published: | 24/04/2001 | | Assignee: | New York Blood Center, Inc., New York, NY, USA |
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