CYBB


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CYBB

A gene on chromosome Xq21.1 that encodes the cytochrome b beta chain, which is a primary component of the microbicidal oxidase system of phagocytes
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Point mutations in the promoter region of the CYBB gene leading to mild chronic granulomatous disease.
affected 1-3 2 M, 1 F MPO Ex12-2A[right arrow]C/ MPO deficiency Ex12-2A[right arrow]C 4 F MPO Ex12-2A[right MPO deficiency arrow]C/R569W 5 F MPO Ex12-2A[right MPO deficiency arrow]C/A332V 6 F MPO R569W/A332V MPO deficiency 7 M CGD IVS6-1157A[right CYBB arrow]GX chromosome 8 M CGD 962T[right arrow]G CYBB and 970deIG X chromosome 9 M CGD delGly533 CYBB X chromosome Patient Sex Status Mutation DHR signal no.
Copy number = [Peak area of SMN (U)/[Peak area of CYBB (U)] x K (U)]]/[Peak area of SMN (C)/[Peak area of CYBB (C) x K (C)] x 4 (1)
Because CYBB is X-linked, K (U) and K (C) represent the following factors: male = 2 and female = 1.