Sequence variants for inferring human pigmentation patterns

C - Chemistry – Metallurgy – 12 – Q

Patent

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C12Q 1/68 (2006.01)

Patent

CA 2702169

The present invention discloses variants that are predictive of human pigmentation patterns. The invention furthermore relates to variants that are useful for determining risk of skin cancer, including melanoma and basal cell carcinoma. The disclosed variants can be utilized for the determination of the natural pigmentation patterns of a human individual, and for determining a susceptibility to melanoma and basal cell carcinoma, from a sample of genetic material. Methods and kits including the variants described are useful in e.g. forensic testing and diagnostic applications.

La présente invention concerne des variants qui sont prédictifs de motifs de pigmentation humaine. L'invention porte en outre sur des variants qui sont utiles pour déterminer un risque de cancer de la peau, comprenant un mélanome et un épithélioma basocellulaire. Les variants décrits peuvent être utilisés pour la détermination des motifs de pigmentation naturelle d'un individu humain, et pour la détermination d'un risque de mélanome et d'épithélioma basocellulaire, à partir d'un prélèvement de matière génétique. Des procédés et des coffrets comprenant les variants décrits sont utiles, par exemple, pour des applications de test médico-légal et de diagnostic.

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