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A new polymorphic site in the G6PD gene
Authors:Ernest Beutler  Beryl Westwood  Brian Sipe
Institution:(1) Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10666 North Torrey Pines Road, 92037 La Jolla, CA, USA
Abstract:Summary 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 TrarrC 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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