Identification of the causative mutation for inherited connective tissue disorders in equines and methods for testing for same

Abstract

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.

Description

[0001]This application claims priority to U.S. patent application Ser. No. 61 / 486,464, filed on May 16, 2011, the disclosure of which is incorporated herein by reference.FIELD OF THE INVENTION[0002]The present invention relates generally to inherited disease observed in horses. More particularly, the invention relates to detecting a point mutation in a gene associated with Fragile Foal Syndrome Type 1.DESCRIPTION OF RELATED ART[0003]Inherited connective tissue disorders occur in a variety of species. They are known by many names and are associated with many different underlying genetic defects. Nonetheless, they all present with skin hyperextensibility. Warmblood Fragile Foal Syndrome Type 1 (WFFST1) occurs in the Warmblood horse population which are a group of mid-sized horse types primarily originating in Europe, developed with the aim of competing in Olympic equestrian sports (often called Sport Horses). The presently available pedigree data shows that Warmblood Fragile Foal Synd...

AI Technical Summary

Benefits of technology

[0026]Those skilled in the art will also recognize that probes and primers can be developed for detecting LH1 sequences that contain the mutation or for LH1 sequences that do not contain the mutation based on the nucleotide sequences described herein. For example, any fragment of SEQ ID NO:2 or SEQ ID NO:4, or their complements, that is at least 12 nucleotides long and does not encompass the mutation site can be used as a primer for any conventional amplification or sequencing reaction to perform the method of the invention. Any fragment that is at least 12 nucleotides long and which does encompass the mutation site can be used for detecting the presence or absence of the mutation using any conventional technique that involves hybridization of a diagnostic probe that can discriminate between an A or a G at the mutation site. In specific embodiments, PCR can be performed on DNA obtained from a horse with a first primer that is identical or complementary to nucleotides 1-24 of SEQ ID NO:1 and a second primer which is identical or complementary to the 25 nucleotides at the 3′ end of SEQ ID NO:1. Those skilled in the art will recognize that the sense orientation of the first and second primers will be opposite according to conventional PCR methods.

Problems solved by technology

Nonetheless, they all present with skin hyperextensibility.

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