Methods comprising apoptosis inhibitors for the generation of transgenic pigs

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Stem Cell Related Patent Number US6838240

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:Described herein are methods of determining whether a human subject is a carrier of a mutated BLM gene, in the diagnosis of Bloom's syndrome (BS). 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 human subject is a carrier of a mutated BLM gene. Further described are methods by which the onset of BS may be prevented in a subject, and vectors and stem cells that are useful for such a treatment are provided, such as a purified and isolated nucleic acid encoding an enzymatically active BLM protein, a vector comprising this nucleic acid, and a cell stably transformed with this vector. Also included is a method for producing the recombinant, enzymatically active BLM protein. Further disclosed are methods and materials for producing from embryonic stem cells a nonhuman, transgenic mammal comprising the mutated BLM gene. Therapeutic applications emphasize gene therapy with a nucleic acid encoding the active BLM protein in the treatment of Bloom's syndrome and cancer.
Abstract:The present invention provides a method for diagnosing Bloom's syndrome (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 human 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:US6838240
Application Number:US2001000753143
Date Filed:02/01/2001
Date Published:04/01/2005
Assignee:New York Blood Center, Inc., New York, NY, USA University of Cincinnati, Cincinnati, OH, USA


 
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