1998 Fiscal Year Final Research Report Summary

Study of Pyrimidine Metabolism Disorders (2) : Biochemical and molecular analyses on asymptomatic dihydropyrimidinuria and high-pyrimidinuria

Research Project

Project/Area Number	09470183
Research Category	Grant-in-Aid for Scientific Research (B)
Allocation Type	Single-year Grants
Section	一般
Research Field	Pediatrics
Research Institution	NAGOYA CITY UNIVERSITY
Principal Investigator	WADA Yoshiro Nagoya City University, Medical School, Prof., 医学部, 教授 (30004849)
Co-Investigator(Kenkyū-buntansha)	KIDOUCHI Kiyoshi Nagoya Higashi General Hospital, Pediatrics, Chief, 小児科, 部長
Project Period (FY)	1997 – 1998
Keywords	pyrimidine / dihydropyrimidine
Research Abstract	Study of Pyrimidine Metabolism Disorders (2) : Biochemical and molecular analyses on asymptomatic dihydropyrimidinuria and high-pyrimidinuria 1. Dihydropyrirnidinuria We performed a molecular analysis on 4 asymptomatic dihydropyrimidinuria who had been detected by the urinary screening examination. Each exon (1 - 9) of the gene coding for dihydropyrimidinase was amplified by PCRamplification. The PCR products was subcloned and sequenced. We identified two missence mutations and one frarneshift mutations. Two related adults were homozygous for the 1001G transiton. One unrelated infant was heterozygous for the 1001G transition and the InsA.Onother unrelated infant was heterozygous for the A1001G transition and the G1303A. 2. Dihydropyrimidin dehydrogenase deficiency We analysed the dihydropyrimidine dehydrogenase gene in a patient with a severe fluorouracil toxicity, and identified novel mutations.