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Chapter 5,825

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

Brown, R.M.; Dahl, H.H.

Genomics 1(1): 67-70

1987

ISSN/ISBN: 0888-7543
PMID: 3666748
Accession: 005824767
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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 Huntingdon's disease is located in this region. Although this part of the chromosome is being extensively studied, DHPR is the first well-characterized 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.

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