Skip to main content
Log in

Molecular Analysis of Congenital Adrenal Hyperplasia in a Newborn Screening Program

  • Original Reserch
  • Commentary
  • Published:
Molecular Diagnosis Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

References

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

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

    PubMed  CAS  Google Scholar 

  3. 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

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

    PubMed  CAS  Google Scholar 

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

    PubMed  CAS  Google Scholar 

  6. 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

    Article  PubMed  CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  10. 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

    Article  PubMed  CAS  Google Scholar 

  11. 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

    Article  PubMed  CAS  Google Scholar 

  12. 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

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Anthony A. Killeen MD, PhD.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Killeen, A.A. Molecular Analysis of Congenital Adrenal Hyperplasia in a Newborn Screening Program. Molecular Diagnosis 6, 189–191 (2001). https://doi.org/10.1007/BF03262052

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF03262052

Navigation