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A new polymorphic site in the G6PD gene
E Beutler1, B Westwood, B Sipe
1Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, CA 92037.
Abstract:
A polymorphic restriction site has been found in intron 11 of the gene for glucose-6-phosphate dehydrogenase (G6PD). This site is produced by a T----C substitution 13 bp upstream of exon 12, producing an NlaIII restriction site. In various populations there was a strong association between a T at nt 1311 of the G6PD cDNA and the presence of the NlaIII restriction site. Among African Americans, however, the presence of a C at nt 1311 was sometimes associated with the presence of a polymorphic NlaIII site.
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