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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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)
Sequencing of the CYBB gene documented a novel insertiondeletion mutation in exon 10 which resulted in amino acid alterations at positions 388 and 389.
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.
4] Human genes: CYBB, cytochrome b-245, beta peptide; BRCA1, breast cancer 1, early onset; CFTR, cystic fibrosis transmembrane conductance regulator (ATP binding cassette sub-family C, member 7); BRCA2, breast cancer 2, early onset; ACADM, acyl-CoA dehydrogenase, C-4 to C-12 straight chain; CYP2C9, cyto chrome P450, family 2, subfamily C, polypeptide 9; VKORC1, vitamin K epoxide reductase complex, subunit 1; F2, coagulation factor II (thrombin); F5, coagulation factor V (proaccelerin, labile factor); MTHFR, methylenetetrahydrofolate reductase (NAD(P)H).