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The C494F Variant in the CYP11B1 Gene Is a Sequence Polymorphism in the Spanish Population

Unidad de Medicina Molecular (L.L., C.Q., F.B., F.D.) Departamento de Fisiología (F.D.), and Departamento de Pediatria (J.B., M.P.), Facultad de Medicina, Complejo Hospitalario Universitario de Santiago Santiago de Compostela, Spain

In their screening for mutation analysis of individuals with 11ß-hydroxylase deficiency, Skinner et al. (1) reported the mutation C494F, a G to T transversion in the second bp of the codon, located in exon 9 of the CYP11B1 gene. They found the C494F mutation in homozygosity in one Indian and two Turkish siblings patients.

We amplified the CYP11B1 gene by PCR using three sets of primers (2) to selectively amplify exons 1-2, 3–6, and 7–9 without amplifying the gene CYP11B2, which shares 95% sequence homology. After purification, the PCR products were sequenced by the dideoxy method an analyzed in an automatic DNA sequencer (ALF Express; Amersham Pharmacia Biotech, Barcelona, Spain). The exon 9 was sequenced in both directions. Of 10 chromosomes of patients suspecting of suffering 11ß-hydroxilase deficiency and 40 chromosomes of normal Spanish people analyzed in our study, we found the C494F variant in 100% of suspected affected people, as well as in 100% of normal chromosomes. These data clearly indicate that C494F, which is located 10 amino acids from the C-terminal of the protein, is a sequence polymorphism and cannot affect the enzymatic activity of the 11ß-hydroxilase enzyme.

Footnotes

¹ Received February 8, 1999. Accepted August 26, 1999. Address correspondence to: Lourdes Loidi, Medicina Molecular, Hospital de Conxo, Rúa Ramón Baltar, s/n, Santiago de Compostela, Spain 15706.

References

1. Skinner CA, Rumsby G, and Honour JW. 1996 Single strand conformation polymorphism (SSCP) analysis for the detection of mutations in the CYP11B1 gene. J Clin Endocrinol Metab. 81:2389–2393.[Abstract]
2. White PC, Dupont J, New MI, et al. 1991. A mutation in CYP11B1 (Arg-448 His) associated with steroid 11b-hydroxylase deficiency in Jews of Moroccan origin. J Clin Invest. 87:1664–1667.

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