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Glucose-6-Phosphate Dehydrogenase Deficiency Mutations in Papua New Guinea
GILLIAN WAGNER, KULDEEP BHATIA and PHILIP BOARD
Vol. 68, No. 3 (June 1996), pp. 383-394
Published by: Wayne State University Press
Stable URL: http://www.jstor.org/stable/41465483
Page Count: 12
You can always find the topics here!Topics: Genetic mutation, Dehydrogenases, Biochemistry, Polymerase chain reaction, Introns, DNA, Exons, Oligonucleotides, Enzymes, Alleles
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We characterize the molecular basis of two G6PD deficiency variants from Papua New Guinea (PNG) and use the information to examine the extent of molecular heterogeneity underlying G6PD variation in the country. The Wosera G6PD—enzyme was found in a male from the East Sepik Province; it had unique biochemical characteristics compared with other previously described G6PD variants from PNG. The Wosera mutation occurred in exon 12 and led to an Arg⁴⁶³→ His substitution.The Kalo mutation, which led to G6PD deficiency in a male from the Central Province along the south coast of PNG, was found in exon 11 and resulted in an Arg⁴⁶³→Cys substitution. Although screening for the two molecular mutations using sequence-specific oligonucleotide (SSO) hybridization revealed a wide distribution for the Kalo variant along the coastal belt, no additional copy of the Wosera variant was found in a range of samples. Moreover, 28 G6PD— genes from various parts of PNG failed to hybridize with oligonucleotides encoding either the Kalo or Wosera variants. This suggests that more than the two G6PD mutations exist in PNG, confirming the previously noted biochemical heterogeneity of G6PD deficiency in the Melanesian populations of this region.
Human Biology © 1996 Wayne State University Press