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  • Title: Detection of point mutations in exon 2 of the G6PD gene in Chinese G6PD variants.
    Author: Xu W, Wang J, Hua X, Du C.
    Journal: Chin Med Sci J; 1994 Mar; 9(1):20-3. PubMed ID: 8086629.
    Abstract:
    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 (A95-->G), accounted for about 15.4% of the Chinese G6PD variants. In order to develop a strategy for rapid detection of mutation-containing exons of the G6PD gene, we applied the single-strand conformation polymorphism (SSCP) technique to the detection of mutations in exon 2 of this gene. We observed four patients with abnormal migration patterns of the exon 2 band among 20 cases of G6PD variants. Direct PCR sequencing confirmed a T to 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.
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