Identification of novel point mutations in the dihydropyrimidine dehydrogenase gene
نویسندگان
چکیده
منابع مشابه
Identification of novel mutations in the dihydropyrimidine dehydrogenase gene in a Japanese patient with 5-fluorouracil toxicity.
5-Fluorouracil (5-FU) is used widely in the treatment of several common neoplasms. Dihydropyrimidine dehydrogenase (DPD) is the initial and rate-limiting enzyme in the catabolism of 5-FU. Several recent studies have described a pharmacogenetic disorder in which cancer patients with decreased DPD activity develop life-threatening toxicity following exposure to 5-FU. We reported recently the firs...
متن کاملDihydropyrimidine dehydrogenase activity in 150 healthy Japanese volunteers and identification of novel mutations.
PURPOSE Dihydropyrimidine dehydrogenase (DPD) is the initial and rate-limiting enzyme catalyzing the metabolic degradation of the anticancer drug 5-fluorouracil (5-FU). Population studies of DPD activity in peripheral blood mononuclear cells (PBMC) were reported in healthy volunteers and cancer patients. Although these studies were done in mainly Caucasian and African American populations, only...
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The intron-exon structure of Khorasan native fowl interleukin-2 (IL-2) was investigated. For this purpose, twenty chickens were selected from the Native Fowl Breeding Station of Khorasan province, and genomic DNA was extracted using a modified conventional DNA extraction protocol. An 875 bp fragment of IL-2 was successfully amplified, including a small part of the promoter, exon 1, intron 1, an...
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Background: KDM3A is a key epigenetic regulator that is expressed in the testis and is required for packaging and condensation of sperm chromatin. To this point, the association of the KDM3A gene and infertility has not been studied in human. The aim of this study was to screen any new mutation in KDM3A gene to explore more details of human male infertility. Methods: In this work, 150 infertile...
متن کاملNovel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure.
Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disease characterized by thymine-uraciluria in homozygous deficient patients. Cancer patients with a partial deficiency of DPD are at risk of developing severe life-threatening toxicities after the administration of 5-fluorouracil. Thus, identification of novel disease-causing mutations is of the utmost importance to all...
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ژورنال
عنوان ژورنال: Journal of Inherited Metabolic Disease
سال: 1997
ISSN: 0141-8955
DOI: 10.1023/a:1005357307122