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Detection of Mutations in the CYP21 Gene Using the DCode System

diagnosis, it is essential to use a technique that not only detects the most frequent previously identified point mutations but also both undefined and rare point mutations. The DGGE analysis fulfills these criteria, and therefore constitutes a fast and reliable procedure for genetic analysis of 21-hydroxylase deficiency.


References
1. Speiser, P. W., Dupont, J., Zhu, D., Serrat, J., Buegeleisen, M., Tusie-Luna, M. T., Lesser, M., New, M. I., and White, P. C., Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency, J. Clin. Invest., 90, 58495 (1992).

2. Barbat, B., Bogyo, A., Raux-Demay, M. C., Kuttenn, F., Boue, J., Simon- Bouy, B., Serre, J. L., and Mornet, E., Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency, Hum. Mutat., 5, 12630 (1995).

3. Wedell, A., Thilen, A., Ritzen, E. M., Stengler, B., and Luthman, H., Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation, J. Clin. Endocrinol. Metab., 78, 114552 (1994).

4. Ezquieta, B., Oliver, A., Gracia, R., and Gancedo, P. G., Analysis of steroid 21-hydroxylase gene mutations in the Spanish population, Hum. Genet., 96, 198204 (1995).

5. Lajic, S., and Wedell, A., An intron 1 splice mutation and a nonsense mutation (W23X) in CYP21 causing severe congenital adrenal hyperplasia, Hum. Genet., 98(2):1824 (1996).

6. Levo, A., and Partanen, J., Novel nonsense mutation (W302X) in the steroid 21-hydroxylase gene of a Finnish patient with the salt-wasting form of congenital adrenal hyperp
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