WO2012158711 IDENTIFICATION OF THE CAUSATIVE MUTATION FOR INHERITED CONNECTIVE TISSUE DISORDERS IN EQUINES

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Publication Number WO/2012/158711

Publication Date 22.11.2012

International Application No. PCT/US2012/037981

International Filing Date 15.05.2012

IPC

CPC

Applicants

CORNELL UNIVERSITY [US]/[US] (AllExceptUS)
WINAND, Nena, J. [US]/[US] (UsOnly)

Inventors

WINAND, Nena, J.

Agents

LOPINSKI, John, D.

Priority Data

61/486,464

16.05.2011

Publication Language English (en)

Filing Language English (EN)

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Title

(EN) IDENTIFICATION OF THE CAUSATIVE MUTATION FOR INHERITED CONNECTIVE TISSUE DISORDERS IN EQUINES

(FR) IDENTIFICATION DE LA MUTATION RESPONSABLE DE TROUBLES DU TISSU CONJONCTIF HÉRÉDITAIRES CHEZ LES ÉQUIDÉS

Abstract

(EN) Provided is a description of a mutation which is positively correlated with Warmblood Fragile Foal Syndrome Type 1 (WFFST1). The mutation is a G to A change at a specific location in the equine lysyl hydroxylase 1 (LH1) gene. Compositions and methods for use in diagnosing WFFST1 are provided.

(FR) L'invention porte sur une description d'une mutation qui est positivement corrélée au syndrome du poulain à sang chaud fragile de type 1 (WFFST1). La mutation est un changement de G en A en un endroit spécifique dans le gène de la lysyl hydroxylase 1 (LH1) équine. L'invention porte également sur des compositions et des procédés destinés à être utilisés dans le diagnostic du WFFST1.

C	CHEMISTRY; METALLURGY
12	BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
Q	MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; 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, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
68	involving nucleic acids

C	CHEMISTRY; METALLURGY
12	BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
Q	MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; 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, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
68	involving nucleic acids

C	CHEMISTRY; METALLURGY
12	BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
Q	MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
1	Measuring or testing processes involving enzymes, nucleic acids or microorganisms
68	involving nucleic acids
6876	Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
6883	for diseases caused by alterations of genetic material

C	CHEMISTRY; METALLURGY
12	BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
Q	MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
2600	Oligonucleotides characterized by their use
156	Polymorphic or mutational markers

C	CHEMISTRY; METALLURGY
12	BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
Q	MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
1	Measuring or testing processes involving enzymes, nucleic acids or microorganisms
68	involving nucleic acids
6876	Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
6883	for diseases caused by alterations of genetic material

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1. WO2012158711 - IDENTIFICATION OF THE CAUSATIVE MUTATION FOR INHERITED CONNECTIVE TISSUE DISORDERS IN EQUINES