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Figure 1 | BMC Medical Genetics

Figure 1

From: Genetic interaction of GSH metabolic pathway genes in cystic fibrosis

Figure 1

Distribution of patients according to different genotype combinations for the clustering of mutations in the CFTR gene and GCLC*-129C>T, GCLC*-350A>G, GSTP1*+313A>G, GSTM1 and GSTT1 genes deletion polymorphisms with the Bhalla score (BS). For the CFTR gene: (MI) Mutation-Identified and (MNI) Mutation-No-Identified to class I, II and/or III. Combinations of high risk are in gray and white to low-risk. In the figure only the polymorphisms with positive interaction with the BS are shown. The stronger association with the BS is observed by the genes with bigger interaction (GSTM1, GSTT1 and CFTR), and with the GSTP1*+313A>G polymorphism in a weak association. To data showed, the GCLC*-129C>T, GCLC*-350A>G polymorphisms not show association, and are not included in the figure. GST - glutathione S-transferase; CFTR - Cystic Fibrosis Transmembrane Regulator. The number in the figure represents the patients with genotype combination, for example, in the first square one patient (left column – severe BS) has the follow genotype: (i) two identified mutation in the CFTR gene, (ii) deletion of GSTM1 and GSTT1 in homozygous, and (iii) A/A genotype to GSTP1+313A>G polymorphism and three (right column- mild BS) patients without the combined genotype presence.

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