Use of cbg gene as genetic marker of hypercortisolemia and...

C - Chemistry – Metallurgy – 12 – Q

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C12Q 1/68 (2006.01) A01K 67/027 (2006.01) C12N 15/85 (2006.01)

Patent

CA 2465320

The invention concerns a method for identifying polymorphous markers associated with the hypercortisolemia phenotype. The invention is characterized in that it consists in comparing nucleic acid sequences of several subjects, comprising all or part of the Cbg gene and identifying mutations in the Cbg gene or the sequences adjacent thereto. The invention also concerns a polymorphous marker associated with the hypercortisolemia phenotype consisting of a nucleic acid sequence comprising all or part of the Cbg gene or adjacent 3' or 5' sequences preferably distant by not more than 100 kb.

La présente invention concerne une méthode d'identification de marqueurs polymorphes associés au phénotype d'hypercortisolémie caractérisée en ce qu'elle comprend la comparaison de séquences d'acide nucléique, de plusieurs individus, comprenant tout ou partie du gène Cbg et l'identification de mutations dans le gène Cbg ou les séquences qui lui sont adjacentes. L'invention a également pour objet un marqueur polymorphe associé au phénotype d'hypercortisolémie constitué d'une séquence d'acide nucléique comprenant tout ou partie du gène Cbg ou des séquences 3' ou 5' adjacentes éloignées préférentiellement au plus de 100kb.

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