C - Chemistry – Metallurgy – 12 – Q
Patent
C - Chemistry, Metallurgy
12
Q
C12Q 1/68 (2006.01) C12N 9/12 (2006.01)
Patent
CA 2606672
The invention relates to a polynucleotide encoding a leucine - rich repeat kinase 2 having a mutation in amino acid position 2019 (nucleotide position 6055). The polynucleotide consists of the base sequence of SEQ. ID. NO. 2, or a complementary strand thereto, wherein X is one of the group being defined by the bases A, C or T. The invention also relates to a primer and a probe specific for the polynucleotide, wherein the primer and/or probe contains at the least 10 consecutive nucleotides, and finally the use of the probe for proving parkinsonism inheritance.
La présente invention concerne un polynucléotide codant pour la protéine LRRK2 (leucine-rich repeat kinase 2) et comportant une mutation de l~acide aminé en position 2019 (nucléotide en position 6055). Le polynucléotide est formé par la séquence nucléotidique SEQ ID NO : 2 ou par un brin complémentaire, dans laquelle X est l~un des éléments du groupe défini par les bases A, C ou T. La présente invention concerne également une amorce et une sonde spécifiques du polynucléotide, l~amorce et/ou la sonde comprenant au moins 10 nucléotides consécutifs. L~invention concerne enfin l~utilisation de la sonde pour mettre en évidence le caractère héréditaire de la maladie de Parkinson.
Aasly Jan O.
Farrer Matthew J.
Wszolek Zbigniew K.
Aasly Jan O.
Mayo Foundation For Medical Education And Research
Mbm Intellectual Property Law Llp
LandOfFree
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