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Machine translation
1. (WO2001036657) ALTERED TYPE IX COLLAGEN GENE SEQUENCES ASSOCIATED WITH INTERVERTEBRAL DISC DISEASE
Latest bibliographic data on file with the International Bureau   

Pub. No.:    WO/2001/036657    International Application No.:    PCT/US2000/031527
Publication Date: 25.05.2001 International Filing Date: 17.11.2000
Chapter 2 Demand Filed:    18.05.2001    
IPC:
C07K 14/78 (2006.01), C12Q 1/68 (2006.01)
Applicants: PHILADELPHIA HEALTH & EDUCATION CORPORATION [US/US]; Suite 100, 3201 Arch Street, Philadelphia, PA 19104 (US) (For All Designated States Except US).
PROCKOP, Darwin, J. [US/US]; (US) (For US Only).
ALA-KOKKO, Leena [FI/US]; (US) (For US Only)
Inventors: PROCKOP, Darwin, J.; (US).
ALA-KOKKO, Leena; (US)
Agent: DOYLE, Kathryn; Morgan, Lewis & Bockius LLP, 1701 Market Street, Philadelphia, PA 19103 (US)
Priority Data:
60/166,054 17.11.1999 US
Title (EN) ALTERED TYPE IX COLLAGEN GENE SEQUENCES ASSOCIATED WITH INTERVERTEBRAL DISC DISEASE
(FR) SEQUENCES GENIQUES MODIFIEES DE COLLAGENE DE TYPE IX, ASSOCIEES A LA DISCOPATHIE
Abstract: front page image
(EN)The invention relates to compositions, kits, and methods for detecting polymorphic alleles of the human genes encoding the $g(a)2 and $g(a)3 chains of type IX collagen (i.e. the COL9A2 and COL9A3 genes). The invention also includes compositions, kits, and methods for assessing whether a subject is afflicted with, or is predisposed to become afflicted with a disorder associated with the presence in the subject of an aberrant COL9A2 and COL9A3 gene, such as a COL9A2 or COL9A3 allele that encodes a collagen protein chain having a tryptophan residue substituted in place of a residue that is normally arginine or glutamine. The invention also includes methods of treating subjects afflicted with such disorders.
(FR)L'invention concerne des compositions, des kits et des méthodes de détection d'allèles polymorphes des gènes humains codant pour les chaînes $g(a)2 et $g(a)3 du collagène de type IX (les gènes COL9A2 et COL9A3). L'invention porte également sur des compositions, des kits et des méthodes pour déterminer si une personne souffre de ou est sujet à un trouble associé à la présence dans celui-ci d'un gène COL9A2 et COL9A3, tel qu'un allèle COL9A2 ou COL9A3 qui code pour une chaîne protéique de collagène possédant un reste tryptophane substitué à un reste normalement arginine ou glutamine. L'invention concerne encore des méthodes de traitement de sujets atteints desdits troubles.
Designated States: AU, CA, JP, US.
European Patent Office (AT, BE, CH, CY, DE, DK, ES, FI, FR, GB, GR, IE, IT, LU, MC, NL, PT, SE, TR).
Publication Language: English (EN)
Filing Language: English (EN)