Literature DB >> 1349559

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

D Owerbach1, M B Draznin, R J Carpenter, F Greenberg.   

Abstract

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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Year:  1992        PMID： 1349559     DOI： 10.1007/bf00207055

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  9 in total

1.  Salt-wasting congenital adrenal hyperplasia: detection and characterization of mutations in the steroid 21-hydroxylase gene, CYP21, using the polymerase chain reaction.

Authors:  D Owerbach; A L Ballard; M B Draznin
Journal:  J Clin Endocrinol Metab       Date:  1992-03       Impact factor: 5.958

2.  Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency.

Authors:  E Mornet; P Crété; F Kuttenn; M C Raux-Demay; J Boué; P C White; A Boué
Journal:  Am J Hum Genet       Date:  1991-01       Impact factor: 11.025

3.  Direct analysis of CYP21B genes in 21-hydroxylase deficiency using polymerase chain reaction amplification.

Authors:  D Owerbach; Y M Crawford; M B Draznin
Journal:  Mol Endocrinol       Date:  1990-01

Review 4.  Congenital adrenal hyperplasia. (1).

Authors:  P C White; M I New; B Dupont
Journal:  N Engl J Med       Date:  1987-06-11       Impact factor: 91.245

Review 5.  Molecular and clinical advances in congenital adrenal hyperplasia.

Authors:  W L Miller; L S Levine
Journal:  J Pediatr       Date:  1987-07       Impact factor: 4.406

6.  A segregation and linkage study of classical and nonclassical 21-hydroxylase deficiency.

Authors:  S L Sherman; C E Aston; N E Morton; P W Speiser; M I New
Journal:  Am J Hum Genet       Date:  1988-06       Impact factor: 11.025

7.  Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products.

Authors:  Y Higashi; A Tanae; H Inoue; T Hiromasa; Y Fujii-Kuriyama
Journal:  Proc Natl Acad Sci U S A       Date:  1988-10       Impact factor: 11.205

8.  Oligonucleotide probes for HLA-DQA and DQB genes define susceptibility to type 1 (insulin-dependent) diabetes mellitus.

Authors:  D Owerbach; S Gunn; G Ty; L Wible; K H Gabbay
Journal:  Diabetologia       Date:  1988-10       Impact factor: 10.122

Review 9.  First trimester prenatal treatment and molecular genetic diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency).

Authors:  P W Speiser; N Laforgia; K Kato; J Pareira; R Khan; S Y Yang; C Whorwood; P C White; S Elias; E Schriock
Journal:  J Clin Endocrinol Metab       Date:  1990-04       Impact factor: 5.958
  9 in total
  2 in total

1.  Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization and Southern blot.

Authors:  P W Speiser; P C White; J Dupont; D Zhu; A B Mercado; M I New
Journal:  Hum Genet       Date:  1994-04       Impact factor: 4.132

2.  Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia.

Authors:  H H Lee; H T Chao; H T Ng; K B Choo
Journal:  J Med Genet       Date:  1996-05       Impact factor: 6.318
  2 in total

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