Localization of the human dihydropteridine reductase gene to band p15.3 of chromosome 4 by in situ hybridization.
We report the localization of the gene for dihydropteridine reductase (DHPR) to the human chromosome region 4p15.3 by in situ hybridization using a cDNA probe to the enzyme. The distal end of the short arm of chromosome 4 is of considerable interest because the gene responsible for Huntington's disease is located in this region. Although this part of the chromosome is being extensively studied, DHPR is the first well-characterised gene to be assigned to the region. Restriction enzyme fragment length polymorphisms have been detected with a number of restriction endonucleases, including AvaII and MspI. These features may make the DHPR cDNA clone a useful probe not only for prenatal diagnosis of DHPR deficiency but also for linkage studies of Huntington's disease.
Brown
R M
RM
Murdoch Institute for Research into Birth Defects, Royal Children's Hospital, Melbourne, Australia.
Dahl
H H
HH
D001483:Base Sequence; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4; D004247:DNA / Q000235:genetics; D004093:Dihydropteridine Reductase / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008969:Molecular Sequence Data; D009247:NADH, NADPH Oxidoreductases / Q000235:genetics*; D009693:Nucleic Acid Hybridization
D004247:DNA; D004093:Dihydropteridine Reductase; D009247:NADH, NADPH Oxidoreductases