Nucleotide 1376 G-->T mutation in G6PD-deficient Chinese in Malaysia.

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

Research output: Contribution to journalArticle

Abstract

G6PD deficiency is the most common human enzymopathy and affects 200 million people worldwide. To date more than 400 biochemical variants and at least 60 different point mutations in the G6PD locus have been discovered. In Malaysia the overall incidence of G6PD deficiency among males is 3.1%, being more prevalent among the Chinese and Malays and less common among the Indians. As part of our initial effort to characterise G6PD deficiency in the Malaysian population, we investigated 18 G6PD deficient Chinese male neonates for the G6PD mutation G-->T at nt 1376, a common mutation seen among the Chinese in Taiwan and mainland China. The mutation was detected by a PCR-based technique using primers that artificially create a site for restriction enzyme Xho I. We found 61% (11 out of 18) of the Chinese G6PD deficient male neonates positive for this mutation. Study of enzyme electrophoretic mobility in 7 of the cases positive for this mutation revealed three different patterns of mobility. 107% (5 out of 7), 103% (1 out of 7) and 100% (1 out of 7). This study shows that mutation G-->T at nt 1376 is a common allele causing G6PD deficiency in Malaysians of Chinese origin. The finding of different patterns of electrophoretic mobility among the 7 cases positive for 1376 G-->T mutation supports the notion that diverse biochemical variants may share the same mutation.

Original languageEnglish
Pages (from-to)61-65
Number of pages5
JournalThe Malaysian journal of pathology
Volume17
Issue number2
Publication statusPublished - Dec 1995

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Malaysia
Nucleotides
Glucosephosphate Dehydrogenase Deficiency
Mutation
Newborn Infant
Enzymes
Taiwan
Point Mutation
China
Alleles
Polymerase Chain Reaction
Incidence
Population

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Nucleotide 1376 G-->T mutation in G6PD-deficient Chinese in Malaysia. / Ainoon, O.; Joyce, J.; Boo, N. Y.; Cheong, S. K.; Hussin, Noor Hamidah.

In: The Malaysian journal of pathology, Vol. 17, No. 2, 12.1995, p. 61-65.

Research output: Contribution to journalArticle

Ainoon, O, Joyce, J, Boo, NY, Cheong, SK & Hussin, NH 1995, 'Nucleotide 1376 G-->T mutation in G6PD-deficient Chinese in Malaysia.', The Malaysian journal of pathology, vol. 17, no. 2, pp. 61-65.
Ainoon, O. ; Joyce, J. ; Boo, N. Y. ; Cheong, S. K. ; Hussin, Noor Hamidah. / Nucleotide 1376 G-->T mutation in G6PD-deficient Chinese in Malaysia. In: The Malaysian journal of pathology. 1995 ; Vol. 17, No. 2. pp. 61-65.
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