Isolation of the lamin gamma2 gene in horses and its use in diagnostic junctional epidermolysis bullosa
AssigneesUniversity of Guelph, Institut National de la Sante et de la Recherche Medicale
InventorsJohn Baird, Keith Linder, Guerrino Meneguzzi, Flavia Spirito, Alexandra Charlesworth
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Abstract
The laminin γ2 subunit of equine laminin-5 gene has been cloned and the nucleic acid and corresponding protein amino acid sequence is provided. A method of diagnosing junctional epidermolysis bullosa in horses is also provided based on the determination that a mutation in the laminin γ2 gene in which a cytosine is inserted at position 1368 is associated with the disease.
Claims20
An isolated polynucleotide encoding equine laminin γ2.
Equine laminin γ2, in a form essentially free from other proteins of mammalian origin.
Equine laminin γ2, having the amino acid sequence of SEQ ID No:
- 2.
Equine laminin γ2, that is encoded by a polynucleotide having the nucleotide sequence of nucleotides 1-3570 of SEQ ID No:
- 1.
A method of diagnosing epidermolysis bullosa in a horse comprising the steps of:
- 1) obtaining a biological sample from the horse;
- 2) isolating nucleic acid therefrom and amplifying laminin γ2-encoding nucleic acid using appropriate primers;
- and
- 3) analysing the amplified nucleic acid to identify the presence of mutated laminin γ2-encoding nucleic acid having a cytosine insert at position 1368, wherein the homozygous presence of said mutated laminin γ2-encoding nucleic acid indicates a diagnosis of epidermolysis bullosa.
A kit for diagnosing epidermolysis bullosa in horses comprising the nucleic acid primers 5′-TGTTACTCAGGGGATGAGAA-3′ (SEQ ID No:
- 29) and (antisense) 5′-CTGGGGGCAGTTATTGCAC-3′ (SEQ ID No:
- 30).
A monoclonal or polyclonal antibody directed against equine laminin γ2.
A method of diagnosing JEB in a horse comprising:
- 1) obtaining a biological sample from a horse;
- 2) isolating the protein component from the sample;
- and
- 3) screening the sample for laminin γ2 peptide, wherein absence of laminin γ2 peptide in the sample is indicative of JEB.
Dependencies are inferred from the claim text.