Assignment of human porphobilinogen deaminase to 11q24.1----q24.2 by in situ hybridization and gene dosage studies.
In situ hybridization and gene dosage-effect studies were conducted to determine the detailed chromosomal location of the gene encoding human porphobilinogen deaminase (PBGD). Red cell PBGD activity was normal in one patient with monosomy for 11q24.2----qter but was increased 1.5 times in another patient with trisomy for 11q22.2----qter. The cDNA probe for PBGD was found to be specifically hybridized to band 11q24. These results suggest that the gene for PBGD is localized within the region 11q24.1----q24.2.
Department of Pediatrics, Okayama University Medical School, Japan.
H
H
Namba
K
K
Narahara
K
K
Tsuji
Y
Y
Yokoyama
Y
Y
Seino
D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D015342:DNA Probes; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000097:blood / Q000235:genetics*; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D014314:Trisomy
D015342:DNA Probes; D011163:Hydroxymethylbilane Synthase