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A new polymorphic site in the G6PD gene.

作者信息

Beutler E, Westwood B, Sipe B

机构信息

Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, CA 92037.

出版信息

Hum Genet. 1992 Jul;89(5):485-6. doi: 10.1007/BF00219170.

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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