DETECTION OF POINT MUTATIONS IN EXON 2 OF THE G6PD GENE IN CHINESE G6PD VARIANT

In the past few years,a total of 6 different mutations of the G6PD gene have been reported in china.One of these,the C6 mutation(A^95→G),accounted for about 15.4％ of the Chinese G6PD variants.In ordet to develop a strategy for rapid detection of mutation-containing exons of the G6PD gene,we applied the single-strand confor-mation polymorphism(SSCP)technique to the detection of mutations in exon 2 of this gene.We observed four pa-tients with abnormal migration patterns of the exon 2 band among 20 cases of G6PD variants.Direct PCR se-quencing confirmed a Tto C substitution in exon 2 that has previously been reported.This procedure is therefore of particular importance for the rapid detection of mutation-containing exons in the G6PD gene.