Premium
Red cell glucose phosphate isomerase (GPI): a molecular study of three novel mutations associated with hereditary nonspherocytic hemolytic anemia
Author(s) -
Repiso Ada,
Oliva Baldomero,
VivesCorrons JoanLluis,
Beutler Ernest,
Carreras José,
Climent Fernando
Publication year - 2006
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9466
Subject(s) - missense mutation , exon , biology , compound heterozygosity , mutation , hemolytic anemia , genetics , red cell , heterozygote advantage , microbiology and biotechnology , red blood cell , gene , biochemistry , immunology , medicine , allele
Molecular characteristics of red blood cell (RBC) glucose phosphate isomerase (GPI) deficiency are described in two Spanish patients with chronic nonspherocytic hemolytic anemia. One patient, with residual GPI activity in RBCs of around 7% (GPI‐Catalonia), is homozygous for the missense mutation c.1648A>G (p.Lys550Glu) in exon 18. The other patient, with residual activity in RBCs of around 20% (GPI‐Barcelona), was found to be a compound heterozygote for two different missense mutations: c.341A>T (p.Asp113Val) in exon 4 and c.663T>G (p.Asn220Lys) in exon 7. Molecular modeling using the human crystal structure of GPI as a model was performed to determine how these mutations could affect enzyme structure and function. © 2006 Wiley‐Liss, Inc.