Structural organization of the human dihydropyrimidine dehydrogenase gene.

摘要: Deficiency of the pyrimidine catabolic enzyme, dihydropyrimidine dehydrogenase (DPD), has been shown to be responsible for a pharmacogenetic syndrome in which administration 5-fluorouracil is associated with severe and potentially life-threatening toxicity. Following recent availability cDNA DPD, there were initial reports several molecular defects (point mutations, deletions due exon skipping) that suggested as potential basis DPD deficiency, even before complete physical structure gene was known. To understand mechanism we have determined genomic organization human gene. The approximately 150 kb length, it consists 23 exons, ranging size from 69 1404 bp. sequences intronic regions flanking boundaries determined. map should permit development rapid assays detect point mutations or small