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Articles |
1
Servei d'Hormonologia, Hospital Clínic i Provincial de Barcelona, and
2
Secció d'Endocrinologia, Hospital Universitari de Sant Joan de Deu, Spain.
a Address for correspondence: Servei d'Hormonologia, Hospital Clínic, Villarroel 170 08036, Barcelona, Spain. Fax 34-3-227.54.54; e-mail labhor{at}medicina.ub.es
Impaired synthesis of adrenal steroid hormones because of steroid 21-hydroxylase deficiency is one of the most common inborn errors of metabolism. To expedite molecular diagnosis in families with 21-hydroxylase deficiency, we have designed a rapid strategy to determine nine of the most common mutations in the 21-hydroxylase gene. According to the mutation to be detected, we apply either of two simple strategies: digestion with adequate restriction enzyme or use of the amplification-created restriction site (ACRS) approach and subsequent restriction analysis. Both procedures are rapid and, being nonradioactive, are safer to perform; moreover determination of zygosity in the analyzed mutations requires only one tube per mutation.
Key Words: indexing terms: congenital adrenal hyperplasia • heritable disorders • adrenal steroid hormones • amplification-created restriction site analysis
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  S. Kleinle, R. Lang, G. F. Fischer, H. Vierhapper, F. Waldhauser, M. Fodinger, and S. M. Baumgartner-Parzer Duplications of the Functional CYP21A2 Gene Are Primarily Restricted to Q318X Alleles: Evidence for a Founder Effect J. Clin. Endocrinol. Metab., October 1, 2009; 94(10): 3954 - 3958. [Abstract] [Full Text] [PDF]
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M. P. Caulfield, T. Lynn, M. E. Gottschalk, K. L. Jones, N. F. Taylor, E. M. Malunowicz, C. H. L. Shackleton, R. E. Reitz, and D. A. Fisher The Diagnosis of Congenital Adrenal Hyperplasia in the Newborn by Gas Chromatography/Mass Spectrometry Analysis of Random Urine Specimens J. Clin. Endocrinol. Metab., August 1, 2002; 87(8): 3682 - 3690. [Abstract] [Full Text] [PDF]
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 N. Krone, A. Braun, S. Weinert, M. Peter, A. A. Roscher, C.-J. Partsch, and W. G. Sippell Multiplex Minisequencing of the 21-Hydroxylase Gene as a Rapid Strategy to Confirm Congenital Adrenal Hyperplasia Clin. Chem., June 1, 2002; 48(6): 818 - 825. [Abstract] [Full Text] [PDF]
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C. E. Keegan and A. A. Killeen An Overview of Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency J. Mol. Diagn., May 1, 2001; 3(2): 49 - 54. [Full Text]
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 M. Lako, S. Ramsden, R D. Campbell, and T. Strachan Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis J. Med. Genet., February 1, 1999; 36(2): 119 - 124. [Abstract] [Full Text]
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A. A. Killeen, R. R. Jiddou, and K. S. Sane Characterization of frequent polymorphisms in intron 2 of CYP21: application to analysis of segregation of CYP21 alleles Clin. Chem., December 1, 1998; 44(12): 2410 - 2415. [Abstract] [Full Text] [PDF]
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N. Krone, A. A. Roscher, H. P. Schwarz, and A. Braun Comprehensive analytical strategy for mutation screening in 21-hydroxylase deficiency Clin. Chem., October 1, 1998; 44(10): 2075 - 2082. [Abstract] [Full Text] [PDF]
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