Ornithine transcarbamylase deficiency: a novel splice site mutation in a family with meiotic recombination and a new useful SNP for diagnosis

• Type: Article in International Scientific Journal
• Date: 2002

Authors

Azevedo, L (Author) Other; Vilarinho, L (Author) Other; Teles, EL (Author) Other; Amorim, A (Author) FCUP

Journal

Title: Molecular Genetics and Metabolism

Vol. 76

Pages: 68-70

ISSN: 1096-7192

Publisher: Elsevier

Indexing

ISI Web of Knowledge - 6 Citations

Scopus - 6 Citations

Scientific classification

FOS: Medical and Health sciences > Other medical sciences

Other information

Authenticus ID: P-000-PJD

DOI: 10.1016/s1096-7192(02)00013-6

Abstract (EN): Ornithine transcarbamylase (OTC, EC 2.1.3.3) deficiency (OTCD; OMIM #311250) is known to be genetically very heterogeneous, with many cases occurring de novo, due to an exceptional instability of the OTC gene. We report a new G > T substitution in the first nucleotide of intron 2 and we describe also a novel SNP (IVS8 + 35 nt: G > T) with very convenient frequencies (62%/38%) for its use as an extra tool for OTCD diagnosis in cases of suspected deletions.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 3