MOLECULAR VARIANTS OF RED-CELL GLUCOSE-6-PHOSPHATE-DEHYDROGENASE DEFICIENCY IN CENTRAL JAVA, INDONESIA

One hundred and sixty-nine Javanese males were screened for the presen ce of red cell glucosed-phosphate dehydrogenase (G6PD) variants by a d ye decoloration screening test and starch gel electrophoresis. The fre quency of G6PD deficiency was 14%. Three non-deficient electrophoretic variants with mobilities of 95, 105 and 107% of Gd-B+ were encountere d. Sixteen G6PD-deficient subjects were further investigated for the p resence of mutations at nt95 A-->G, nt487 G-->A, nt493 A->G, nt563 C-> T, nt1024 C-->T, nt1376 G-->T, nt1388 G-->A and the silent mutation (n t1311 C-->T) of the G6PD gene by natural or artificially created ampli fied restriction sites. They were identified by the polymerase chain r eaction and electrophoresis of restriction-digested products. Five sub jects had the Mediterranean mutation (nt563 C-->T), but only one had s imultaneous presence of nt1311(T). The next common mutations were 1376 (T) in three subjects and 487(A) in two subjects. Five of the sixteen subjects had the nt1311(T) mutation giving an overall frequency of 0.3 1. The other four mutations were absent in this population sample.