Novel nucleic acids and associated diagnostics
AssigneeStowers Institute for Medical Research
InventorsOlivier Pourquie, Karen Staehling-Hampton, Kym Delventhal
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Abstract
The present invention relates to methods of diagnosing spondylocostal dysostosis (SCD) disorders, such as Jarcho-Levin syndrome, in humans for use in genetic counseling and linkage analyses. Methods and compositions for measuring the presence or absence of a specific mutation to Mesp2 associated with Jarcho-Levin syndrome, alone or in combination with other mutations associated with spondylocostal dysostosis, are provided.
Claims27
A method of identifying a subject having a mutation associated with spondylocostal dysostosis comprising:
- a) obtaining a biological sample from a subject comprising genomic DNA of the subject;
- b) detecting in the genomic DNA substitution of a thymine for a guanine at nucleotide position 307 of exon 1 of Mesp2, whereby detection of the substitution is indicative of a mutation associated with spondylocostal dysostosis.
A kit for identifying a subject having a mutation associated with spondylocostal dysostosis comprising a means for detecting the presence or absence of substitution of a thymine for a guanine at nucleotide position 307 of exon 1 of Mesp2 in a biological sample from a subject, whereby detection of the presence of the substitution is indicative of a mutation associated with spondylocostal dysostosis.
A kit for identifying a subject having a mutation associated with spondylocostal dysostosis comprising
- a) labeled ddNTPs;
- b) a first primer designed to anneal to the sequence adjacent to position 307 of exon 1 of Mesp2 and to extend with complementary labeled ddNTPs in the presence of a thymine at position 307 of exon 1 of Mesp2;
- and optionally,
- c) a second primer designed to anneal to the sequence adjacent to position 307 of exon 1 of Mesp2 and to extend with complementary labeled ddNTPs in the presence of a guanine at position 307 of exon 1 of Mesp2.
A kit for identifying a subject having a mutation associated with spondylocostal dysostosis comprising at least one nucleic acid probe consisting essentially of at least 8 contiguous nucleotides of SEQ ID NO. 2, or the exact compliment of SEQ ID NO. 2, and wherein one of the nucleotides corresponds to position 307 of exon 1 of Mesp2.
Dependencies are inferred from the claim text.