Diagnostic and screening method for male infertility

Details Diagnostic and screening method for male infertility Diagnostic and screening method for male infertility

C - Chemistry, Metallurgy

12

Q

C12Q 1/48 (2006.01) C12Q 1/68 (2006.01)

Patent

CA 2400922

The present invention relates to a novel diagnostic method for the detection of infertility in males. In particular, the present invention relates to a diagnostic method for detecting the presence or absence of a mutation or mutations in the POLG gene encoding mitochondrial DNA polymerase in a biological sample. The invention relates also to the use of a mutant POLG gene in the detection of infertility in males and in the screening of human populations for the presence of such mutation or mutations as a predictive test for male infertility. The invention also relates to the use of the POLG gene as an indicator of other pathological conditions associated with or related to male infertility, including those manifesting in women.

L'invention concerne un procédé diagnostique permettant de déceler la stérilité masculine, et en particulier un procédé diagnostique permettant de déceler la présence ou l'absence d'une ou plusieurs mutations dans le gène POLG qui code l'ADN polymérase mitochondriale dans un échantillon biologique. L'invention concerne en outre l'utilisation d'un gène POLG mutant dans la détection de la stérilité masculine et dans le criblage de populations humaines visant à déceler la présence d'une ou plusieurs mutations de ce type, en guise de test de prévision relatif à la stérilité masculine. L'invention concerne enfin l'utilisation du gène POLG comme indicateur d'autres états pathologiques associés ou liés à la stérilité masculine, y compris les états pathologiques concernés chez les femmes.

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