Literature DB >> 2878615

Clinical application of DNA analysis in a family with OTC deficiency.

R E McClead, R Rozen, J Fox, L Rosenberg, J Menke, R Bickers, G Morrow.   

Abstract

We describe the clinical application of DNA restriction fragment analysis to the genetic evaluation of a family with a child deficient in ornithine transcarbamylase (OTC). The results of protein loading studies and the interpretation of the DNA haplotype profiles for the human OTC gene are reported. DNA restriction fragment analysis may be a reliable technique for the prenatal diagnosis of OTC deficiency and identification of obligate carriers of this gene.

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Year:  1986        PMID： 2878615     DOI： 10.1002/ajmg.1320250313

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  8 in total

1.  A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency.

Authors:  A Hata; T Matsuura; C Setoyama; K Shimada; T Yokoi; I Akaboshi; I Matsuda
Journal:  Hum Genet       Date:  1991-05       Impact factor: 4.132

2.  DNA analysis of ornithine transcarbamylase deficiency.

Authors:  U Wendel; E Wilichowski; J Schmidtke; C Bachmann
Journal:  Eur J Pediatr       Date:  1988-05       Impact factor: 3.183

3.  Improved molecular diagnostics for ornithine transcarbamylase deficiency.

Authors:  M Grompe; C T Caskey; R G Fenwick
Journal:  Am J Hum Genet       Date:  1991-02       Impact factor: 11.025

4.  An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cells.

Authors:  J T Lee; R L Nussbaum
Journal:  J Clin Invest       Date:  1989-12       Impact factor: 14.808

5.  Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency.

Authors:  A Pelet; A Rotig; C Bonaïti-Pellié; D Rabier; V Cormier; E Toumas; D Hentzen; J M Saudubray; A Munnich
Journal:  Hum Genet       Date:  1990-01       Impact factor: 4.132

Review 6.  Diagnosis of genetic disease using recombinant DNA. Supplement.

Authors:  D N Cooper; J Schmidtke
Journal:  Hum Genet       Date:  1987-09       Impact factor: 4.132

7.  Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.

Authors:  A Maddalena; J E Spence; W E O'Brien; R L Nussbaum
Journal:  J Clin Invest       Date:  1988-10       Impact factor: 14.808

8.  Reducing False-Positive Results in Newborn Screening Using Machine Learning.

Authors:  Gang Peng; Yishuo Tang; Tina M Cowan; Gregory M Enns; Hongyu Zhao; Curt Scharfe
Journal:  Int J Neonatal Screen       Date:  2020-03-03
  8 in total

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