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1. (WO1997017979) METHODS FOR DIAGNOSIS AND TREATMENT OF BLOOM'S SYNDROME
Latest bibliographic data on file with the International Bureau

Pub. No.: WO/1997/017979 International Application No.: PCT/US1996/019046
Publication Date: 22.05.1997 International Filing Date: 15.11.1996
Chapter 2 Demand Filed: 11.06.1997
IPC:
A61K 48/00 (2006.01) ,C12N 9/90 (2006.01) ,C12Q 1/68 (2006.01)
A HUMAN NECESSITIES
61
MEDICAL OR VETERINARY SCIENCE; HYGIENE
K
PREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
48
Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
C CHEMISTRY; METALLURGY
12
BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
N
MICRO-ORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICRO-ORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
9
Enzymes, e.g. ligases (6.); Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating, or purifying enzymes
90
Isomerases (5.)
C CHEMISTRY; METALLURGY
12
BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
Q
MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
1
Measuring or testing processes involving enzymes or micro-organisms; Compositions therefor; Processes of preparing such compositions
68
involving nucleic acids
Applicants:
NEW YORK BLOOD CENTER, INC. [US/US]; 310 East 67th Street New York, NY 10021-6295, US
Inventors:
ELLIS, Nathan; US
GERMAN, James; US
GRODEN, Joanna; US
Agent:
BOGOSIAN, Elizabeth, A. ; 90 Park Avenue New York, NY 10016, US
Priority Data:
08/559,30315.11.1995US
Title (EN) METHODS FOR DIAGNOSIS AND TREATMENT OF BLOOM'S SYNDROME
(FR) PROCEDE PERMETTANT DE DIAGNOSTIQUER ET DE TRAITER LE SYNDROME DE BLOOM
Abstract:
(EN) The present invention provides a method for diagnosing BS as well as determining whether a subject is a carrier of a mutated $i(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 $i(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 $i(BLM) gene, as well as a method for producing the non-human, transgenic animal.
(FR) L'invention concerne un procédé de diagnostic du syndrome de Bloom et ce procédé permet de déterminer si un sujet est porteur d'un gène $i(BLM) muté. L'invention concerne également une ou plusieurs sondes d'acide nucléique monobrin et des anticorps pouvant être formulés en kit, et utilisés pour diagnostiquer le syndrome de Bloom ou déterminer si un sujet est porteur d'un gène $i(BLM) muté. De plus, la présente invention fournit une méthode permettant de traiter ou de prévenir l'apparition du syndrome de Bloom chez un sujet ayant besoin d'un tel traitement curatif ou préventif; elle décrit également des vecteurs et des cellules souche utiles pour ce traitement curatif ou préventif. La présente invention décrit également un acide nucléique purifié et isolé qui code une protéine BLM à activité enzymatique, un vecteur comprenant cet acide nucléique, une cellule ayant subi une transformation stable à l'aide de ce vecteur, ainsi qu'un procédé permettant de produire une protéine BLM de recombinaison, à activité enzymatique. Une protéine BLM purifiée active sur le plan enzymatique est également décrite dans la présente invention. Finalement, l'invention divulgue un vecteur, une cellule souche embryonnaire, et un animal transgénique non humain, comprenant tous un gène $i(BLM) muté; l'invention décrit également un procédé permettant de produire l'animal transgénique non humain.
Designated States: CA, IL, JP
European Patent Office (AT, BE, CH, DE, DK, ES, FI, FR, GB, GR, IE, IT, LU, MC, NL, PT, SE)
Publication Language: English (EN)
Filing Language: English (EN)
Also published as:
IL124471EP0862442US6221643CA2237356