Glucose-6 phosphate dehydrogenase mutations and haplotypes in various
ethnic groups
W Xu, B Westwood, CS Bartsocas, JJ Malcorra-Azpiazu, K Indrak and E Beutler
Department of Molecular and Experimental Medicine, Scripps Research
Institute, La Jolla, CA 92037.
Mutations that produce glucose-6-phosphate dehydrogenase (G6PD) deficiency
have been identified in samples from patients with hemolytic disease in the
United States, and in G6PD-deficient samples from Greece, the Canary
Islands, the Czech and Slovak Republics, South China, and in samples from
the Coriell Cell Repository. Eight new mutations are described.
Particularly unusual were a nonsense mutation ("G6PD Georgia"1284A), a
deletion of six bases ("G6PD Stony Brook" 724- 729 del) coding for two
amino acids, and a deletion of the invariant dinucleotide ApG at the 3'
acceptor splice site in the highly conserved sequence between intron 10 and
exon 11 ("G6PD Varnsdorf"). In addition, five new missense point mutations
were identified: "G6PD Cleveland"820A creates a deduced AA 274
Glu-->Lys; "G6PD West Virginia"910T AA 303 Val- ->Phe; "G6PD
Fushan"1004A, AA 335 Ala-->Asp; "G6PD Olomouc"1141C AA 381 Leu-->Phe;
and "G6PD Praha"1166G AA 389 Glu-->Gly. All of the new mutations except
for "G6PD Fushan"1004A were found in patients with hereditary
nonspherocytic hemolytic anemia. A coincidental finding in the case of G6PD
"West Virginia" was a C-->T transition at nucleotide 1,191. This silent
mutation, Asn-->Asn, appears to be rare. Haplotype analysis of mutations
in samples from the Canary Islands and South China agreed with previous
findings.
Volume 85,
Issue 1,
pp. 257-263,
01/01/1995
Copyright © 1995 by The American Society of Hematology
