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Prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia using the polymerase chain reaction

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Summary

We present an improved method for the prenatal diagnosis of congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. The polymerase chain reaction (PCR) was used to analyze DNA from an affected index case, the parents, and a cultured chorionic villus sample, for point mutations in the steroid 21-hydroxylase (CYP21) gene. We can predict that the fetus is an unaffected carrier.

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References

  • Higashi Y, Tanae A, Inoue H, Hiromasa T, Fujii-Kuriyama Y (1988) Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P450(C21)] deficiency in humans: possible gene conversion products. Proc Natl Acad Sci USA 85:7486–7490

    Google Scholar 

  • Miller WL, Levine LS (1987) Molecular and clinical advances in congenital adrenal hyperplasia. J Pediatr 3:1–17

    Google Scholar 

  • Owerbach D, Gunn S, Ty G, Wible L, Gabbay KH (1988) Oligonucleotide probes for HLA-DQA and DQB genes define susceptibility to type I (insulin-dependent) diabetes mellitus. Diabetologia 31:751–757

    Google Scholar 

  • Owerbach D, Crawford YM, Draznin MB (1990) Direct analysis of CYP21B genes in 21-hydroxylase deficiency using polymerase chain reaction amplification. Mol Endocrinol 4:125–131

    Google Scholar 

  • Owerbach D, Ballard AL, Draznin MB (1992) Salt-wasting congenital adrenal hyperplasia (SW-CAH): detection and characterization of mutations in the steroid hydroxylase gene, CYP21, using the polymerase-chain-reaction. J Clin Endocrinol Metab 74:553–558

    Google Scholar 

  • Mornet E, Crete P, Kuttenn F, et al (1991) Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency. Am J Hum Genet 48:79–88

    Google Scholar 

  • Sherman SL, Aston CE, Morton NE, Speiser PW, New MI (1988) A segregation and linkage study of classical and nonclassical 21-hydroxylase deficiency. Am J Hum Genet 42:830–838

    Google Scholar 

  • Speiser PW, Laforgia N, Koji K, et al (1990) First trimester prenatal treatment and molecular genetic diagnosis of Congenital Adrenal Hyperplasia (21-hydroxylase deficiency). J Clin Endocrinol Metab 70:838–848

    Google Scholar 

  • White PC, New MI, Dupont B (1987) Congenital adrenal hyperplasia. N Engl J Med 316:1519–1524

    Google Scholar 

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Authors and Affiliations

  1. Department of Pediatrics, OB-GYN, Baylor College of Medicine, 77030, Houston, TX, USA

    David Owerbach, Martin B. Draznin & Robert J. Carpenter

  2. Department of Molecular Genetics, Baylor College of Medicine, 77030, Houston, TX, USA

    Frank Greenberg

Authors
  1. David Owerbach
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  2. Martin B. Draznin
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  3. Robert J. Carpenter
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  4. Frank Greenberg
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Owerbach, D., Draznin, M.B., Carpenter, R.J. et al. Prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia using the polymerase chain reaction. Hum Genet 89, 109–110 (1992). https://doi.org/10.1007/BF00207055

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  • DOI: https://doi.org/10.1007/BF00207055

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