G. Stenman et al., REGIONAL ASSIGNMENT OF THE HUMAN 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE GENE (HPD) TO 12Q24-]QTER BY FLUORESCENCE IN-SITU HYBRIDIZATION, Cytogenetics and cell genetics, 71(4), 1995, pp. 374-376
Using a panel of human-rodent somatic cell hybrids, we have previously
mapped the gene (HPD, previously called PPD) encoding 4-hydroxyphenyl
pyruvate dioxygenase to the distal half of the long arm of human chrom
osome 12, region q14-->qter. To obtain a genomic probe useful for fluo
rescence in situ hybridization (FISH) analysis we screened a human leu
kocyte genomic library and isolated a 13.4-kb phage clone, which by re
striction fragment and sequence analyses was shown to contain exons 1-
10 of HPD and approximately 2-kb upstream sequences. We now report the
subregional localization of HPD to 12q24 --> qter based on two color
FISH analysis employing this clone.