Localization of the human dihydropteridine reductase gene to band p15.3 of chromosome 4 by in situ hybridization.

Murdoch Institute for Research into Birth Defects, Royal Children's Hospital, Melbourne, Australia.

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.

PMID: 3666748 [PubMed - indexed for MEDLINE]