STUDY OF THE RELATIONSHIP BETWEEN VARIANTS OF CYP2C9 ENZYME AND ACUTE INTERMITTENT PORPHYRIA MANIFESTATION

LUBNA ABOU ASSALI,; DIEGO MIGUEL GORDILLO; GABRIELA NORA CERBINO; LAURA SABINA VARELA; BATLLE A.; VICTORIA ESTELA PARERA; MARÍA VICTORIA ROSSETTI

International Journal of Latest Research in Science and Technology

MNK PUBLICATION

Año: 2019 vol. 8 p. 1 - 6

The manifestation of Acute Intermittent Porphyria (AIP) requires many factors. In situations of high demand ofheme, initial enzyme of the pathway in parallel to P450 cytochrome genes (CYPs) is induced in response to drugs. It was suggested thatvariants in CYP2C9, would play a role in AIP manifestation, according to the theory of Thunell.S at 2006Acute. Method: It was studiedgenotype and allele frequency of some SNPs in a control and AIP patients groups, then was analyzed the relation of those found variantswith heme precursors. We amplified by PCR a fragment covering from intron 1 to intron 3. All obtained data were analyzed by Statisticalprograms VccSTAT© and InfoSTAT©. Results: We detected 4 different polymorphisms: two missense variants in exon 3 g.8633 C