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Glucose‐6‐phosphate dehydrogenase (G6PD) variants in Malaysian Chinese
Author(s) -
Ainoon O.,
Joyce J.,
Boo N.Y.,
Cheong S.K.,
Zainal Z.A.,
Hamidah N.H.
Publication year - 1999
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(199910)14:4<352::aid-humu14>3.0.co;2-g
Subject(s) - jaundice , mutation , biology , glucose 6 phosphate dehydrogenase , exchange transfusion , incidence (geometry) , gastroenterology , medicine , pediatrics , physiology , genetics , enzyme , dehydrogenase , immunology , biochemistry , gene , physics , optics
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. Hum Mutat 14:352, 1999. © 1999 Wiley‐Liss, Inc.