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International Journal of Latest Research in Science and Technology

DOI:10.29111/ijlrst   ISRA Impact Factor:3.35

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

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International Journal of Latest Research in Science and Technology Vol.8 Issue 3, pp 1-6,Year 2019

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

Abou Assali L , Gordillo DM , Cerbino GN , Varela LS , Batlle A , Parera VE , Rossetti MV

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Received : 14 May 2019; Accepted : 28 May 2019 ; Published : 30 June 2019

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Abstract

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

Key Words   
AIP, CYP2C9, manifestation, HMBS, SNPs

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To cite this article

Abou Assali L , Gordillo DM , Cerbino GN , Varela LS , Batlle A , Parera VE , Rossetti MV , " Study Of The Relationship Between Variants Of Cyp2c9 Enzyme And Acute Intermittent Porphyria Manifestation ", International Journal of Latest Research in Science and Technology . Vol. 8, Issue 3, pp 1-6 , 2019

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