Molecular Analysis of Congenital Adrenal Hyperplasia in a Newborn Screening Program

Anonymous: Newborn screening fact sheets. American Academy of Pediatrics. Committee on Genetics. Pediatrics 1996;98:473-501

Sweetman L: Newborn screening by tandem mass spectrometry (MS-MS). Clin Chem 1996;42:345–346

Anonymous: Tandem mass spectrometry in newborn screening. American College of Medical Genetics/American Society of Human Genetics Test and Technology Transfer Committee Working Group. Genet Med 2000;2:267-269

Levy HL: Newborn screening by tandem mass spectrometry: A new era. Clin Chem 1998;44:2401–2402

Diamandis EP: Sequencing with microarray technology—A powerful new tool for molecular diagnostics. Clin Chem 2000;46:1523–1525

Yang Y-P, Corley N, Garcia-Heras J: Reverse dot-blot (RDB) hybridization as an improved tool for the molecular diagnosis of point mutations in CAHdue to 21-hydroxylase deficiency. Mol Diagn 2001; 6:193–199

White PC, Speiser PW: Congenital adrenal hyper-plasia due to 21-hydroxylase deficiency. Endocr Rev 2000;21:245–291

Keegan CE, Killeen AA: An overview of molecular diagnosis of steroid 21-hydroxylase deficiency. J Mol Diagn 2001;3:49–54

White PC, Tusie-Luna MT, New MI, Speiser PW: Mutations in steroid 21-hydroxylase (CYP21). Hum Mutat 1994;3:373–378

Day DJ, Speiser PW, Schulze E, et al.: Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees. Hum Mol Genet 1996;5:2039–2048

Schulze E, Bettendor M, Maser-Gluth C, Decker M, Schwabe U: Allele-dropout using PCR-based diagnosis for the splicing mutation in intron-2 of the CYP21B-gene: Successful amplification with a TAQ/ PWO-polymerase mixture. Endocr Res 1998; 24:637–641

Bradley JF, Baker D, Schwartz ID, Rothberg PG: The importance of heteroduplexes in interpreting the results of PCR-RED diagnostic assays: Application to the analysis of mutations in the steroid 21-hydroxylase gene in a case of congenital adrenal hyperplasia. Mol Diagn 1998;3:119–123