Methods for diagnosis and treatment of Bloom's syndrome

Details Methods for diagnosis and treatment of Bloom's syndrome Methods for diagnosis and treatment of Bloom's syndrome

2005-01-04

2005-01-04

Kerr, Kathleen (Department: 1652)

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

C435S007100

Reexamination Certificate

active

06838240

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.

REFERENCES:
patent: 5824501 (1998-10-01), Ellis et al.
patent: 6221643 (2001-04-01), Ellis et al.
patent: 6399378 (2002-06-01), Ward et al.
patent: WO 9717979 (1997-05-01), None
GenBank Accession No. AAA87850. Bloom's syndrome protein. (Nov. 25, 1995).*
GenBank Accession No. U39817. Human Bloom's syndrome protein (BLM) mRNA, complete cds. (Nov. 25, 1995).*
Ellis et al. The Bloom's syndrome gene product is homologous to RecQ helicases. Cell (Nov. 17, 1995) 83(4): 655-666.*
Puranam et al., entitled “Cloning and characterization of RECQL, a potential human homologue of theEscherichia coliDNA helicase RecQ,” J. Biol. Chem. (1994) 269(47): 29838-45, Nov. 1994.
Gangloff et al., entitled The yeast type I topoisomerase Top3 interacts with Sgs1, a DNA helicase homolog: a potential eukaryotic reverse gyrase, Mol. Cell Biol. (Dec. 1994) 14(12):8391-8.
Umezu et al., entitled “Escherichia coliRecQ protein is a DNA helicase,” PNAS (Jul. 1990) 87(14):5363-7.
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., “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).

Affiliated with

Also associated with

Rating

Methods for diagnosis and treatment of Bloom's syndrome does not yet have a rating. At this time, there are no reviews or comments for this patent.

If you have personal experience with Methods for diagnosis and treatment of Bloom's syndrome, we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and Methods for diagnosis and treatment of Bloom's syndrome will most certainly appreciate the feedback.

Rate now

Comments { 0 }

Profile ID: LFUS-PAI-O-3401423