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

a technology of connective tissue disorders and mutations, applied in the field of detecting point mutations in genes associated with fragile foal syndrome type 1 and other directions, can solve problems such as hyperextensibility of all skin types

Inactive Publication Date: 2014-07-03
CORNELL UNIVERSITY
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Benefits of technology

The patent text describes how to develop probes and primers to detect a specific mutation in the LH1 sequence. These probes and primers can be used in conventional amplification or sequencing reactions to determine if the mutation is present or absent. The technique involves using fragments of the SEQ ID NO:2 or SEQ ID NO:4 that are at least 12 nucleotides long and do not include the mutation site as primers. The PCR reaction can be performed using a specific primer that matches the nucleotides 1-24 of SEQ ID NO:1 and a second primer that matches the nucleotides at the 3' end of SEQ ID NO:1. The orientation of these primers will be opposite according to conventional PCR methods. The technical effect of this patent is the ability to accurately detect a specific mutation in the LH1 sequence, which can aid in the diagnosis and treatment of certain medical conditions.

Problems solved by technology

Nonetheless, they all present with skin hyperextensibility.

Method used

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

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example 1

[0038]This Example demonstrates a 100% correlation between homozygosity (AA) for the causative mutation and the disease phenotype. The disease phenotype is recognizable on clinical examination and is characterized by the presence at birth of soft skin lacking adequate tensile strength to withstand even normal environmental contact. The skin is hyperextensible (lacking normal recoil when traction is applied / released) over the whole body, especially the head, neck, thorax and limbs. Over the first hours to days of life, focal seromas, hematomas, and lacerations / ulcerations result from incidental environmental contact. Such lesions are predominantly found over pressure points such as fetlocks (metacarpal-phalangeal joints), carpi (knees), and tarsi (hocks), but may occur anywhere on the body (including oral cavity and perineum). Limb joints, particularly the fetlocks) are lax and hyperextensible, and affected foals cannot typically stand normally. The ears are typically bent or floppy....

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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...

Claims

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Application Information

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Patent Type & Authority Applications(United States)
IPC IPC(8): C12Q1/68
CPCC12Q1/6883G06F9/30G11C11/22G06F9/30134
Inventor WINAND, NENA J.
Owner CORNELL UNIVERSITY
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