C - Chemistry – Metallurgy – 12 – Q
Patent
C - Chemistry, Metallurgy
12
Q
C12Q 1/68 (2006.01)
Patent
CA 2726078
The present invention relates to a method of detecting the presence of or predisposition to autism, or to an autism spectrum disorder, the method comprising detecting the presence of an alteration in the gene loci PITX1, ATP2B2, SLC25A12 and EN2 in a sample from said subject. More particularly, the presence of specific single nucleotide polymorphisms (SNPs) with-in these genes correlates to a substantially increased risk to develop autism.
La présente invention concerne un procédé de détection de la présence d'un autisme ou d'un trouble du spectre autistique, ou d'une prédisposition à ces pathologies, le procédé comprenant la détection de la présence d'une altération dans les loci de gènes PITXl, ATP2B2, SLC25A12 et EN2 dans un échantillon dudit sujet. Plus particulièrement, la présence de polymorphismes nucléotidiques (SNP) spécifiques dans ces gènes est corrélée à un risque sensiblement accru de développer un autisme.
Hager Joerg
Rousseau Francis
Tores Frederic
Fetherstonhaugh & Co.
Integragen
LandOfFree
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