Literature DB >> 2857026

Prenatal exclusion of ornithine transcarbamylase deficiency by direct gene analysis.

J M Old, P L Briand, S Purvis-Smith, N J Howard, B Wilcken, J Hammond, P Pearson, L Cathelineau, R Williamson, K E Davies.   

Abstract

Direct gene analysis was used in the prenatal exclusion of ornithine transcarbamylase (OTC) deficiency; karyotyping the family's previously affected child had already identified the defect as a small deletion. A cloned OTC gene and two other X chromosome-specific probes were mixed, and hybridised to fetal DNA obtained from cultured amniocytes; the fetus was shown to be a normal male.

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Year:  1985        PMID： 2857026     DOI： 10.1016/s0140-6736(85)91966-x

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


  26 in total

1.  Infantile glycerol kinase deficiency--a condition requiring prompt identification. Clinical, biochemical, and morphological findings in two cases.

Authors:  A Kohlschütter; H P Willig; D Schlamp; K Kruse; E R McCabe; H J Schäfer; G Beckenkamp; R Rohkamm
Journal:  Eur J Pediatr       Date:  1987-11       Impact factor: 3.183

2.  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

3.  Molecular cloning of cDNAs for argininosuccinate lyase and arginase of rat liver.

Authors:  S Kawamoto; Y Amaya; T Oda; T Kuzumi; T Saheki; M Tatibana; S Kimura; M Mori
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

4.  Prenatal diagnosis of ornithine carbamoyl transferase deficiency using a gene specific probe.

Authors:  M E Pembrey; J M Old; J V Leonard; C H Rodeck; R Warren; K E Davies
Journal:  J Med Genet       Date:  1985-12       Impact factor: 6.318

5.  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

6.  Specificity of PCR-SSCP for detection of the mutant ornithine transcarbamylase (OTC) gene in patients with OTC deficiency.

Authors:  R Hoshide; T Matsuura; S Komaki; E Koike; I Ueno; I Matsuda
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

7.  Identification of two new aberrant splicings in the ornithine carbamoyltransferase (OCT) gene in two patients with early and late onset OCT deficiency.

Authors:  T Matsuura; R Hoshide; S Komaki; K Kiwaki; F Endo; S Nakamura; T Jitosho; I Matsuda
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

8.  Prenatal monitoring of ornithine transcarbamoylase deficiency in two families by DNA analysis.

Authors:  T Matsuura; R Hoshide; M Fukushima; T Sakiyama; M Owada; I Matsuda
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

9.  Four novel gene mutations in five Japanese male patients with neonatal or late onset OTC deficiency: application of PCR-single-strand conformation polymorphisms for all exons and adjacent introns [corrected].

Authors:  T Matsuura; R Hoshide; C Setoyama; K Shimada; Y Hase; T Yanagawa; M Kajita; I Matsuda
Journal:  Hum Genet       Date:  1993-08       Impact factor: 4.132

10.  Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq.

Authors:  F P Cremers; T J van de Pol; B Wieringa; M H Hofker; P L Pearson; R A Pfeiffer; M Mikkelsen; A Tabor; H H Ropers
Journal:  Am J Hum Genet       Date:  1988-10       Impact factor: 11.025
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