Screening of a novel hepatic syndrome and its uses

Details Screening of a novel hepatic syndrome and its uses Screening of a novel hepatic syndrome and its uses

C - Chemistry, Metallurgy

12

Q

C12Q 1/68 (2006.01)

Patent

CA 2417963

The invention concerns the screening of a hepatic syndrome occurring in the young adult and associating cholesterol biliary microlithiasis, intrahepatic cholestasis and several mutations of the MDR3 gene and the treatment of said syndrome. Said hepatic syndrome screening method comprises at least detecting, from a nucleic acid sample extracted from peripheral blood mononucleate cells, of at least a heterozygote mutation of the MDR3 gene and/or a homozygote mutation not eliminating the expression of the protein expressed by said gene, with phosphatidycholine carrier activity, in adult subjects associating a cholesterol biliary microlithiasis and a intrahepatic cholestasis.

Dépistage d'un syndrome hépatique survenant chez l'adulte jeune et associant une microlithiase biliaire cholestérolique, une cholestase intra-hépatique et une ou plusieurs mutations du gène MDR3 et traitement dudit syndrome. Ledit procédé de dépistage d'un syndrome hépatique comprend au moins la détection, à partir d'un échantillon d'acide nucléique extrait de cellules mono-nucléées du sang périphérique, d'au moins une mutation hétérozygote du gène MDR3 et/ou d'une mutation homozygote n'abolissant pas l'expression de la protéine exprimée par ledit gène, à activité de transporteur de la phosphatidylcholine, chez des sujets adultes associant une microlithiase biliaire cholestérolique et une cholestase intra-hépatique.

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