Namba H, Narahara K, Tsuji K, Yokoyama Y, Seino Y
Department of Pediatrics, Okayama University Medical School, Japan.
Cytogenet Cell Genet. 1991;57(2-3):105-8. doi: 10.1159/000133123.
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.
进行了原位杂交和基因剂量效应研究，以确定编码人胆色素原脱氨酶（PBGD）的基因在染色体上的详细位置。一名11q24.2至qter单体型患者的红细胞PBGD活性正常，但另一名11q22.2至qter三体型患者的红细胞PBGD活性增加了1.5倍。发现PBGD的cDNA探针与11q24带特异性杂交。这些结果表明，PBGD基因定位于11q24.1至q24.2区域内。
