Screening for Arthrogryposis Multiplex in Bovines
First Claim
1. A method of diagnosing a mutation in a bovine genome, wherein said mutation is associated with Arthrogryposis Multiplex (AM), said method comprising:
- obtaining a DNA sample from the bovine; and
analyzing said DNA sample to determine the presence or absence of a deletion mutation for one or more of an AGRN gene, ISG15 gene or HES4 gene,said DNA having an upstream region, a downstream region, and a middle region that separates said upstream region from said downstream region indicates absence of the deletion mutation; and
said DNA having said upstream region and said downstream region in a contiguous configuration is identified as having the deletion mutation.
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Accused Products
Abstract
Provided are methods, materials and kits for analyzing DNA samples from bovine to determine whether the animal is a recessive carrier of a genetic mutation that is associated with arthrogryposis multiplex (AM). DNA-containing samples are analyzed by genetic testing to determine whether or not a deletion mutation is present in one of the alleles that are responsible for the AM genetic mutation. In an aspect the deletion encompasses the entirety of the ISG15 ubiquitin-like modifier (ISG15) gene. In an aspect the deletion further encompasses one or both of the 5′ regulatory region of the hairy and enhancer split 4 (HES4) and of the agrin (AGRN) gene and of the first two exons of the AGRN gene.
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Citations
28 Claims
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1. A method of diagnosing a mutation in a bovine genome, wherein said mutation is associated with Arthrogryposis Multiplex (AM), said method comprising:
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obtaining a DNA sample from the bovine; and analyzing said DNA sample to determine the presence or absence of a deletion mutation for one or more of an AGRN gene, ISG15 gene or HES4 gene, said DNA having an upstream region, a downstream region, and a middle region that separates said upstream region from said downstream region indicates absence of the deletion mutation; and said DNA having said upstream region and said downstream region in a contiguous configuration is identified as having the deletion mutation. - View Dependent Claims (2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20)
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21. A method for screening a bovine to determine if said bovine carries a mutation for AM, said method comprising:
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providing a biological sample which was removed from said bovine to be screened; and conducting a biological assay to determine the presence of a mutation in the gene responsible for AM, wherein the mutation comprises a deletion of bases 6507 to 29870 in SEQ ID NO;
1 (cross-referenced as SEQ ID NO;
3).
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22. An oligonucleotide for diagnosing heterozygous carriers of AM, wherein the oligonucleotide has a length of 15 to 80 nucleotides, and having a region, wherein the region is identical or a reverse complement to a sequence of an at least fifteen-nucleotide segment of SEQ ID NO:
- 1 or SEQ ID NO;
2. - View Dependent Claims (23, 24, 25, 26, 27, 28)
- 1 or SEQ ID NO;
Specification