Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Chinese.

O. Ainoon, J. Joyce, N. Y. Boo, S. K. Cheong, Z. A. Zainal, Noor Hamidah Hussin

Research output: Contribution to journalArticle

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Abstract

We screened 38 G6PD-deficient male Chinese neonates for known G6PD mutations using established PCR-based techniques. We found 50.0% (19 of 38) were mutation 1376G>T, 34.2% (13 of 38) were mutation 1388G>A, 5.2% (2 of 38 ) were mutation 95A>G and 2.2% (1 of 38) was mutation 1024C>T. In 7% (3 of 38) of the cases the mutations remained uncharacterised. Sixty three percent (24 of 38) of the G6PD deficient neonates had neonatal jaundice with 28.9 % (11 of 38) developing moderate to severe hyperbilirubinemia. The group of neonates with 1388 mutation showed the highest incidence of moderate to severe hyperbilirubinemia requiring phototherapy and/or exchange transfusion respectively. Majority (70%) of the G6PD deficient neonates showed severe enzyme deficiency. However, there was no meaningful association between the level of enzyme activity and the severity of neonatal jaundice. In summary, four mutations account for more than 90% of the G6PD deficiency cases among the Chinese in Malaysia and the pattern of distribution of the molecular variants is similar to those found among the Chinese in Taiwan and southern mainland China. Our findings also suggest the possible association of nt 1388 mutation with severe neonatal jaundice.

Original languageEnglish
Pages (from-to)352
Number of pages1
JournalHuman Mutation
Volume14
Issue number4
Publication statusPublished - Oct 1999

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Glucosephosphate Dehydrogenase
Mutation
Neonatal Jaundice
Newborn Infant
Hyperbilirubinemia
Glucosephosphate Dehydrogenase Deficiency
Phototherapy
Malaysia
Enzymes
Taiwan
China
Polymerase Chain Reaction
Incidence

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Ainoon, O., Joyce, J., Boo, N. Y., Cheong, S. K., Zainal, Z. A., & Hussin, N. H. (1999). Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Chinese. Human Mutation, 14(4), 352.

Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Chinese. / Ainoon, O.; Joyce, J.; Boo, N. Y.; Cheong, S. K.; Zainal, Z. A.; Hussin, Noor Hamidah.

In: Human Mutation, Vol. 14, No. 4, 10.1999, p. 352.

Research output: Contribution to journalArticle

Ainoon, O, Joyce, J, Boo, NY, Cheong, SK, Zainal, ZA & Hussin, NH 1999, 'Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Chinese.', Human Mutation, vol. 14, no. 4, pp. 352.
Ainoon O, Joyce J, Boo NY, Cheong SK, Zainal ZA, Hussin NH. Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Chinese. Human Mutation. 1999 Oct;14(4):352.
Ainoon, O. ; Joyce, J. ; Boo, N. Y. ; Cheong, S. K. ; Zainal, Z. A. ; Hussin, Noor Hamidah. / Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Chinese. In: Human Mutation. 1999 ; Vol. 14, No. 4. pp. 352.
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