Mutations of the parkin gene, compositions, methods and uses

A method for the identification of a genetic alteration in a parkin gene in a subject, comprising:

• i) contacting one or more detectably labeled oligonucleotides with a parkin nucleic acid in a biological sample from a subject, wherein the oligonucleotide specifically hybridizes to a sequence comprising a genetic alteration in said parkin nucleic acid, and ii) detecting hybridization of the one or more oligonucleotides with said parkin nucleic acid, thereby identifying a genetic alteration in a parkin gene in the subject upon detection of hybridization in step ii),
• wherein said genetic alteration in said parkin gene is selected from the group consisting of:
• a) a deletion of one or more exons selected from the group consisting of:
• exon 2, exons 2-3, exons 2-4, exons 3-4, exons 3-6, exons 3-9, exon 5, exons 5-6, exon 6, exons 6-7, exons 7-9, and exon 8;
• b) a multiplication of exons selected from the group consisting of:
• a triplication of exon 2, a duplication of exon 3, a duplication of exon 6, a duplication of exon 7, and a duplication of exon 11;
• c) a point mutation selected from the group consisting of:
• a mutation from adenine to thymine at a position corresponding to position 584 of SEQ ID NO:1, a mutation from guanine to adenine at a position corresponding to position 601 of SEQ ID NO:1, a mutation from adenine to thymine at a position corresponding to position 734 of SEQ ID NO:1, a mutation from cytosine to thymine at a position corresponding to position 867 of SEQ ID NO:1, a mutation from thymine to adenine at a position corresponding to position 905 of SEQ ID NO:1, a mutation from cytosine to thymine at a position corresponding to position 924 of SEQ ID NO:1, a mutation from guanine to adenine at a position corresponding to position 939 of SEQ ID NO:1, a mutation from thymine to guanine at a position corresponding to position 966 of SEQ ID NO:1, a mutation from guanine to adenine at a position corresponding to position 1084 of SEQ ID NO:1, a mutation from cytosine to thymine at a position corresponding to position 1101of SEQ ID NO1, a mutation from guanine to cytosine at a position corresponding to position 1239 of SEQ ID NO:1, a mutation from guanine to adenine at a position corresponding to position 1281 of SEQ ID NO:1, a mutation from cytosine to adenine at a position corresponding to position 1345 of SEQ ID NO:1, a mutation from guanine to adenine at a position corresponding to position 1390 of SEQ ID NO:1, and a mutation from guanine to adenine at a position corresponding to position 1459 of SEQ ID NO:1;
• d) a deletion of 1 or more contiguous base pairs selected from the group consisting of:
• a deletion of nucleotides adenine and guanine at positions corresponding to positions 202-203 of SEQ ID NO:1, a deletion of adenine at a position corresponding to position 255 of SEQ ID NO:1, and a deletion of nucleotides guanine and adenine at positions corresponding to positions 1142-1143 of SEQ ID NO:1;
• or e) an insertion of 1 or more contiguous base pairs selected from the group consisting of:
• an insertion of guanine and thymine at positions corresponding to 321-322 of SEQ ID NO:1.