Marker for individuals susceptible to alcoholism

C - Chemistry – Metallurgy – 12 – Q

Patent

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Details

C12Q 1/68 (2006.01) C07H 21/04 (2006.01) C07K 16/40 (2006.01) G01N 33/573 (2006.01) G01N 33/68 (2006.01)

Patent

CA 2198863

The present invention relates to methods for diagnosis of susceptibility to alcoholism or the pathological effects of alcoholism based on detection of a genetic marker in an individual. The present invention is directed generally to methods and associated compositions and kits for detecting the presence of arylsulfatase A (ASA) pseudodeficiency (PD) mutations in humans. Detection of these mutations has been surprisingly found to be a strong indicator for susceptibility to alcoholism and/or susceptibility to alcohol's pathological effects, as well as an important marker in evaluating the likelihood of metachromatic leukodystrophy (MLD).

L'invention concerne des procédés de diagnostic de la prédisposition à l'alcoolisme ou aux effets pathologiques de l'alcoolisme, qui consistent à détecter un marqueur génétique chez un individu. L'invention concerne, de façon générale, des procédés, des compositions associées et des kits servant à détecter la présence de mutations de pseudodéficience (PD) d'arylsulfatase A (ASA) chez l'homme. La détection de ces mutations s'est avérée constituer un indicateur puissant de la prédisposition à l'alcoolisme et/ou aux effets pathologiques de l'alcool, ainsi qu'un marqueur important d'évaluation de la présence éventuelle de leucodystrophie métachromatique (MLD).

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