Method of prognosing and diagnosing hereditary spastic paraplegia, mutant nucleic acid molecules and polypeptides
AssigneesVAL-CHUM, L.P., The Royal Institution for the Advancement of Learning/McGill University, Universite de Montreal
InventorsGuy A. Rouleau, Paul Valdmanis, Inge Meijer, Pierre Drapeau, Patrick Dion
Life of this patent
Estimating the term…
Abstract
A method for diagnosing the presence of hereditary spastic paraplegia (HSP) or predicting the risk of developing HSP in a human subject, comprising detecting the presence or absence of a defect in a gene encoding a polypeptide comprising the sequence of FIG. 9 (SEQ ID NO: 19), in a nucleic acid sample of the subject, whereby the detection of the defect is indicative that the subject has or is at risk of developing HSP.
Claims14
A purified polypeptide comprising a sequence selected from the group consisting of the sequence in FIG. 11 (SEQ ID NO:
- 21), in FIG. 13 (SEQ ID NO:
- 23), and in FIG. 15 (SEQ ID NO:
- 25).
An isolated nucleic acid molecule of no more than 300 nucleotides comprising
- (a) a sequence of at least 19 contiguous nucleotides of the sequence of FIG. 10 (SEQ ID NO:
- 20), comprising the nucleotide at position 1740 of FIG. 10;
- (b) a sequence of at least 19 contiguous nucleotides of the sequence of FIG. 12 (SEQ ID NO:
- 22), comprising the nucleotide at position 2186 of FIG. 12;
- (c) a sequence of at least 19 contiguous nucleotides of the sequence of FIG. 14 (SEQ ID NO:
- 24), comprising the nucleotide at position 2205 of FIG. 14;
- (d) the complement of the sequence in (a), (b) or (c);
- or
- (e) a sequence of at least 19 contiguous nucleotides hybridizable under high stringency conditions to the sequence in (a), (b), (c) or (d).
An isolated nucleic acid molecule comprising the sequence of
- (a) FIG. 10 (SEQ ID NO:
- 20);
- (b) FIG. 12 (SEQ ID NO:
- 22);
- (c) FIG. 14 (SEQ ID NO:
- 24);
- or
- (d) the complement of the sequence in (a), (b) or (c).
An isolated nucleic acid molecule encoding a polypeptide comprising the amino acid sequence of
- (a) FIG. 11 (SEQ ID NO:
- 21);
- (b) FIG. 13 (SEQ ID NO:
- 23);
- (c) FIG. 15 (SEQ ID NO:
- 25);
- or
- (d) the complement of the sequence in (a), (b) or (c).
Dependencies are inferred from the claim text.