Study of the relationship between variants of CYP2C9 enzyme and Acute Intermittent Porphyria manifestation

ABOU ASSALI LUBNA; LAURA SABINA VARELA; MARIA VICTORIA ROSSETTI; CERBINO GABRIELA NORA; PARERA VICTORIA ESTELA; DIEGO MIGUEL GORDILLO,; ALCIRA BATLLE

International Journal of Latest Research in Science and Technology

MNK Publication

Año: 2019 vol. 8 p. 1 - 6

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