Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD)
deficiency in patients of Chinese descent and identification of new base
substitutions in the human G6PD gene
DT Chiu, L Zuo, L Chao, E Chen, E Louie, B Lubin, TZ Liu and CS Du
Chang Gung Medical College, Tao-Yuan, Taiwan, China.
The underlying DNA changes associated with glucose-6-phosphate
dehydrogenase (G6PD)-deficient Asians have not been extensively
investigated. To fill this gap, we sequenced the G6PD gene of 43 G6PD-
deficient Chinese whose G6PD was well characterized biochemically. DNA
samples were obtained from peripheral blood of these individuals for
sequencing using a direct polymerase chain reaction (PCR) sequencing
procedure. From these 43 samples, we have identified five different types
of nucleotide substitutions in the G6PD gene: at cDNA 1388 from G to A (Arg
to His); at cDNA 1376 from G to T (Arg to Leu); at cDNA 1024 from C to T
(Leu to Phe); at cDNA 392 from G to T (Gly to Val); at cDNA 95 from A to G
(His to Arg). These five nucleotide substitutions account for over 83% of
our 43 G6PD-deficient samples and these substitutions have not been
reported in non-Asians. The substitutions found at cDNA 392 and cDNA 1024
are new findings. The substitutions at cDNA 1376 and 1388 account for over
50% of the 43 samples examined indicating a high prevalence of these two
alleles among G6PD-deficient Chinese. Our findings add support to the
notion that diverse point mutations may account largely for much of the
phenotypic heterogeneity of G6PD deficiency.
Volume 81,
Issue 8,
pp. 2150-2154,
04/15/1993
Copyright © 1993 by The American Society of Hematology
