Evidence for mutational cis-acting factors affecting mutagenesis in the ornithine transcarbamylase gene.

摘要: Ornithine transcarbamylase (OTC; EC 2.1.3.3) is an urea cycle enzyme coded by a gene located at Xp21.1. The genetic deficiency caused wide spectrum of pathological mutations, most them occurring de novo. Using two (CA)n flanking markers the OTC (DXS997 and DXS1068), we have defined haplotypic background underlying 37 different mutational events compared results with random sample control chromosomes (N=141) from Iberia Peninsula. allelic distribution revealed significant differences between affected non-affected chromosomes. One particular combination can be considered as risk factor for carrying relative 13.3 (95% confidence interval 2.89-61.5, p=1.5 x 10(-5)). Since pathogenic mutations are short-lived or novo, these findings strongly support hypothesis that specific confers higher mutation occurrence this locus.