THE CHARACTERIZATION OF GENE-MUTATIONS FOR HUMAN GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY ASSOCIATED WITH CHRONIC HEMOLYTIC-ANEMIA

Authors
Citation
Wm. Xu et E. Beutler, THE CHARACTERIZATION OF GENE-MUTATIONS FOR HUMAN GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY ASSOCIATED WITH CHRONIC HEMOLYTIC-ANEMIA, The Journal of clinical investigation, 94(6), 1994, pp. 2326-2329
Citations number
22
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Medicine, Research & Experimental
ISSN journal
0021-9738
Volume
94
Issue
6
Year of publication
1994
Pages
2326 - 2329
Database
ISI
SICI code
0021-9738(1994)94:6<2326:TCOGFH>2.0.ZU;2-Q
Abstract
DNA was isolated from four unrelated glucose phosphate isomerase-defic ient patients. Seven new mutations in the coding region were found: 24 7 C-->T, 671 C-->T, 818 G-->A, 833 C-->T, 1039 C-->T, 1459 C-->T, and 1483 G-->A. Three patients were compound heterozygotes, and one patien t was a homozygote of 247 C-->T/247 C-->T. Six mutations were found to involve highly conserved amino acids of glucose phosphate isomerase, suggesting that these residues are crucial for the maintenance of biol ogical activity. Two polymorphic sites were also identified, 489 A-->G and 1356 G-->C, which do not produce a change in the amino acid seque nce.