Premium
DNA analysis for ornithine transcarbamylase deficiency
Author(s) -
Rozen R.,
Fox J. E.,
Hack A. M.,
Fenton W. A.,
Horwich A. L.,
Rosenberg L. E.
Publication year - 1986
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01800858
Subject(s) - ornithine transcarbamylase deficiency , human genetics , ornithine carbamoyltransferase , ornithine transcarbamylase , genetics , metabolic disease , dna , medicine , biology , urea cycle , ornithine , gene , arginine , amino acid
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.