Mutational spectrum and linkage disequilibrium patterns at the ornithine transcarbamylase gene (OTC)

Azevedo, L; Soares, P A; Quental, R; Vilarinho, L; Teles, E L; Martins, E; Diogo, L; Garcia, P; Cenni, B; Wermuth, B; Amorim, A (2006). Mutational spectrum and linkage disequilibrium patterns at the ornithine transcarbamylase gene (OTC). Annals of human genetics, 70(Pt 6), pp. 797-801. Oxford: Wiley-Blackwell 10.1111/j.1469-1809.2006.00283.x

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Ornithine transcarbamylase (OTC; EC 2.1.3.3) is a hepatic enzyme involved in ammonia elimination via the urea cycle. Since the sequence of the OTC gene was reported many types of mutations continue to be found in OTC deficiency patients, continuing to increase the already wide mutational spectrum known for this gene. In this study we present the clinical, biochemical and molecular features of thirteen late-onset OTC deficiency patients. Mutations were identified in all these patients, among which six were novel point substitutions (L59R, A137P, L148S, Y176L, L186P, and K210N) and one was a 2-bp deletion at exon 4 (341-342delAA). In addition, a de novo genomic deletion of maternal origin encompassing exons 1 to 5 was also identified by the analysis of LD patterns using intragenic polymorphic markers. This work exemplifies the potential value of population genetic studies for the detection of large deletions.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Institute of Clinical Chemistry

UniBE Contributor:

Wermuth, Bendicht

ISSN:

0003-4800

ISBN:

17044854

Publisher:

Wiley-Blackwell

Language:

English

Submitter:

Factscience Import

Date Deposited:

04 Oct 2013 14:50

Last Modified:

17 Mar 2015 21:52

Publisher DOI:

10.1111/j.1469-1809.2006.00283.x

PubMed ID:

17044854

Web of Science ID:

000241191400011

URI:

https://boris.unibe.ch/id/eprint/20986 (FactScience: 4803)

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