Haplotype analysis and phylogeny of ornithine transcarbamylase polymorphisms

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

Authors

Azevedo, L (Author) Other; Calafell, F (Author) Other; Vilarinho, L (Author) Other; Amorim, A (Author) FCUP

Journal

Title: Annals of Human Genetics

Vol. 66

Pages: 379-385

ISSN: 0003-4800

Publisher: Wiley-Blackwell

Indexing

ISI Web of Knowledge - 5 Citations

Scopus - 5 Citations

Scientific classification

FOS: Natural sciences > Earth and related Environmental sciences

Other information

Authenticus ID: P-000-MF5

DOI: 10.1017/s000348000200129x

Abstract (EN): Ornithine transcarbamylase (OTC, EC 2.1.3.3) deficiency, the most common inborn error of urea cycle, is caused by a vast number of point mutations, deletions and insertions in the respective gene. Furthermore, 12 single nucleotide polymorphisms (SNPs) have been described in the OTC gene, four of them causing an amino acid change. We have studied the frequency of these markers in two populations: Portuguese and Mozambican. No significant differences were observed between populations, except for Lys --> Arg in codon 46. Allelic associations between polymorphisms were used to define haplotypic patterns. The three common haplotypes (H1, H2 and H3) show a combined frequency of 95% in Portugal and 87% in Mozambique. One haplotype was found only in Portugal and three are only present in Mozambique, resulting in a higher haplotype diversity. The combined information from the SNPs and the DXS1068 (CA)n repeat was used to outline OTC haplotype phylogeny, which, in conjunction with the population data, allowed us to sketch possible evolutionary pathways, although some haplotypes could have arisen by either repeated mutation or recombination.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 7