Nucleic acids of the bloom's syndrome gene

Details Nucleic acids of the bloom's syndrome gene Nucleic acids of the bloom's syndrome gene

1995-11-15

1998-10-20

Chambers, Jasemine C.

Chemistry: molecular biology and microbiology

Micro-organism, tissue cell culture or enzyme using process...

Recombinant dna technique included in method of making a...

4352523, 43525411, 435325, 4353201, 4351723, 536 231, 536 232, 536 235, C12N 1512, C12N 1563, C12N 1500, C07H 2104

Patent

active

058245014

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.

REFERENCES:
James German, M.D., entitled "Bloom Syndrome: A Mendelian Prototype of Somatic Mutational Disease," Medicine, vol. 72, No. 6, pp. 393-406 Nov. (1993).
Nathan A. Ellis et al., entitled "The Bloom's Syndrome Gene Product Is Homologous to RecQ Helicases," Cell, vol. 83, pp. 655-666, Nov. 17, 1995.
Eberhard Passarge, entitled "A DNA helicase in full Bloom", Nature Genetics, vol. 11, pp. 356-357 Dec. (1995).
Puranam et al., "Cloning and characterization of RECQL, a potential human homologue of the Escherichia coli DNA helicase RecQ.", J. Biol. Chem. 269(47):29838-29845, Nov. 1994.

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