ASSIGNMENT OF HUMAN PORPHOBILINOGEN DEAMINASE TO 11Q24.1-]Q24.2 BY INSITU HYBRIDIZATION AND GENE DOSAGE STUDIES

被引：61

作者：

NAMBA, H

NARAHARA, K

TSUJI, K

YOKOYAMA, Y

SEINO, Y

机构：

[1] Department of Pediatrics, Okayama University Medical School, Okayama

来源：

CYTOGENETICS AND CELL GENETICS | 1991年 / 57卷 / 2-3期

关键词：

D O I：

10.1159/000133123

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

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.

引用

页码：105 / 108

页数：4

共 27 条

[1] INCREASED ERYTHROCYTE UROPORPHYRINOGEN-I-SYNTHETASE, DELTA-AMINOLEVULINIC-ACID DEHYDRATASE AND PROTOPORPHYRIN IN HEMOLYTIC-ANEMIAS [J].