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Molecular characterisation of red cell glucose‐6‐phosphate dehydrogenase deficiency in Singapore Chinese
Author(s) -
Saha S.,
Saha N.,
Tay J. S. H.,
Jeyaseelan K.,
Basair J. B.,
Chew S. E.
Publication year - 1994
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830470405
Subject(s) - genetics , mutation , glucose 6 phosphate dehydrogenase deficiency , biology , dehydrogenase , substitution (logic) , gene , microbiology and biotechnology , glucose 6 phosphate dehydrogenase , coding region , endocrinology , biochemistry , enzyme , computer science , programming language
Sixty‐two G6PD deficient Chinese males have been investigated for the presence of seven mutations of the coding region of the G6PD gene by natural and artifically created amplified restriction sites. The results show that the G to T substitution at nucleotide (nt) 1376 and G to A substitution at nt 1388 represent 24% and 21% of G6PD deficiency, respectively, in the Singapore Chinese; 37% of the sample could not be characterised. The remaining samples were identified as follows: 10% C→T at nt 563, 5% A→G at nt 95, and 3% C→T at nt 1024. The G to A substitution (nt 487) and the substitution A→G (nt 493) were not present in this sample. None of the subjects with the Mediterranean mutation (563 C→T) had the silent mutation at 1311 (C→T). This study confirms the extreme molecular heterogeneity of the G6PD gene in the Chinese. © 1994 Wiley‐Liss, Inc.