Jpn. J. Infect. Dis., 57, S12-S13, 2004
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Genomic Variations in Myeloperoxidase Gene
in the Japanese Population
Yosuke Kameoka*, Amanda S. Persad2
and Kazuo Suzuki1
Division of Genetic Resources and 1Department
of Bioactive Molecules, National Institute of Infectious Diseases,
Tokyo, Japan; 2Burdock Group,
Florida, USA
*Corresponding author: ykameoka@nih.go.jp
SUMMARY: Myeloperoxidase (MPO; EC 1.11.1.7) is a lysosomal hemeprotein
that plays an important role in the host defense mechanism against
microbial diseases. This neutrophil disorder, characterized by
the lack of MPO, may result in a weakened defense activity. Complete
MPO deficiency has been postulated to be to originate from genomic
mutation. Recently, two Japanese patients were reported with MPO
deficiency. Both had base substitutions in the exon 9 region of
the MPO gene; a region in close proximity functionally important
residue, His502. Genomic DNA from 387 Japanese individuals was
examined to determine the prevalence of these recently discovered
base substitutions. None of these DNA samples possessed the mutations
found in the MPO deficient cases, though two synonymous and one
non-synonymous mutation were found. The frequency of mutation
in the exon 9 coding region was estimated to be one heterozygote
in 129, thus the homozygote of such mutations would be revealed
one in 16,000 in the Japanese population.