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Fig 1.

An overview of the CYP2D6 gene structure and the primers used to detect deletion, multiplication and CYP2D6*36+*10 tandem.

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Table 1.

Genotypic analysis of G6PD deficiency.

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Table 1 Expand

Table 2.

Kinetic parameters of G6PD variants.

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Table 2 Expand

Fig 2.

Biochemical and structural characterization of recombinant G6PD variants.

(A) Far-UV spectra were recorded over a wavelength range of 190 to 260 nm. (B) Susceptibility to trypsin digestion in the presence of various concentrations of NADP+. (C) Stability analysis upon Gdn-HCl treatment in the presence of various concentrations of NADP+. (D) Thermal stability analysis in the presence of various concentrations of NADP+. Error bars represent the mean ± SD of triplicate measurements.

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Table 3.

Frequency of CYP2D6 allele and SNPs identified in this study.

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Table 3 Expand

Table 4.

Frequency of genotypes and predicted phenotype of CYP2D6.

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Table 4 Expand

Fig 3.

Profile of G6PD deficiency and CYP2D6 in the studied population.

The distribution of (A) G6PD genotypic status (n = 88), (B) CYP2D6 functional alleles (n = 176), and (C) predicted CYP2D6 phenotype (n = 88).

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Fig 4.

Three-dimensional structure of human G6PD enzyme (PDB: 2BHL and 2BH9).

The structural NADP+, NADP+ coenzyme, and G6P substrate are shown as purple, pink, and yellow molecular surface representations, respectively. The mutants are shown in CPK representation. The graphical representation was constructed using Discovery Studio Visualizer-Accelrys.

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