Variants of cytochrome c and methods of diagnosis of thrombocytopenia
AssigneePacific Edge Biotechnology Limited
InventorIan Morison
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Abstract
Embodiments of this invention include oligonucleotides associated with one or mutations associated with familial thrombocytopenia and methods suitable for their detection. Embodiements of this invention include isolated peptides and/or proteins comprising a serine residue at position 42 of the HCS protein. This invention also includes antibodies directed at nucleic acids, peptides or proteins comprising at least a portion of HCS having a serine reside at positon 42. Other embodiements include devices, kits and methods for detecting markers associated with familial thrombocytopenia associated with the HCS42g-s mutation, or to therapies for HCS42g-s using antisense oligonucleotides.
Claims18
-40. (canceled)
An isolated oligonucleotide having at least 14 contiguous nucleotide bases of SEQ ID NO:17 including the sequence ACAAGTC, its complement or its reverse complement.
An isolated oligonucleotide comprising a sequence having at least 13 contiguous nucleotides from SEQ ID NO:
- 16, including an adenosine (A) so that when expressed, the oligonucleotide, if in frame, produces a mutation of Gly to Ser at amino acid position 42 of wild-type cytochrome C.
An oligoribonucleotide comprising the sequence CCUGACUUGUCUU, its complement, or its reverse complement.
An isolated peptide comprising a region of SEQ ID NO:
- 19 (HCS42g-s) containing a sequence of 5 or more contiguous amino acids including position 42.
Dependencies are inferred from the claim text.