DNA Analysis for Ornithine Transcarbamylase Deficiency

Overview

Journal J Inherit Metab Dis

Publisher Wiley

Date 1986 Jan 1

PMID 2878115

Citations 12

Authors

R Rozen

J E Fox

A M Hack

W A Fenton

A L Horwich

L E ROSENBERG

Affiliations

Soon will be listed here.

Abstract

We have utilized the Southern blotting technique to analyse genomic DNA from males with ornithine transcarbamylase (OTC) deficiency and their families. Using a nearly full-length human cDNA probe, we have identified 3 patients with deletions at this locus and have characterized 4 different restriction fragment length polymorphisms that can be used as linkage markers for the OTC mutation. These polymorphisms occur at sufficiently high frequencies so as to enable us to distinguish the two X-chromosomes in approximately 80% of OTC carriers. As a direct consequence of these findings, prenatal diagnosis and carrier assessment can be offered to a large fraction of families at risk for OTC deficiency.

Citing Articles

Contiguous Xp11.4 Gene Deletion Leading to Ornithine Transcarbamylase Deficiency Detected by High-density Single-nucleotide Array.

Ono M, Tsuda J, Mouri Y, Arai J, Arinami T, Noguchi E Clin Pediatr Endocrinol. 2013; 19(2):25-30.

PMID: 23926375 PMC: 3687618. DOI: 10.1297/cpe.19.25.

Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases.

Deardorff M, Gaddipati H, Kaplan P, Sanchez-Lara P, Sondheimer N, Spinner N Mol Genet Metab. 2008; 94(4):498-502.

PMID: 18524659 PMC: 2572572. DOI: 10.1016/j.ymgme.2008.04.011.

Biography of Arthur L. Horwich.

Davis T Proc Natl Acad Sci U S A. 2004; 101(42):15002-4.

PMID: 15479759 PMC: 524080. DOI: 10.1073/pnas.0406924101.

Identification of four novel splice site mutations in the ornithine transcarbamylase gene.

Oppliger Leibundgut E, Wermuth B, COLOMBO J Hum Genet. 1996; 97(2):209-13.

PMID: 8566955 DOI: 10.1007/BF02265267.

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

Matsuura T, Hoshide R, Fukushima M, Sakiyama T, Owada M, Matsuda I J Inherit Metab Dis. 1993; 16(1):31-8.

PMID: 8487501 DOI: 10.1007/BF00711312.

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