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PMID: 1353051 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

A new polymorphic site in the G6PD gene.

Human genetics ·Vol. 89 ·No. 5 ·1992-07-00 ·Pages 485-6

Beutler E, Westwood B, Sipe B

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.

MeSH Terms

Base Sequence Blacks/genetics DNA Mutational Analysis Deoxyribonucleases, Type II Site-Specific/genetics Ethnicity Genes/genetics Glucosephosphate Dehydrogenase/genetics Humans Molecular Sequence Data Mutation Polymorphism, Restriction Fragment Length Restriction Mapping United States

Chemicals

Glucosephosphate Dehydrogenase endodeoxyribonuclease NlaIII Deoxyribonucleases, Type II Site-Specific

Authors & Affiliations

3 authors, click to expand affiliations / ORCID

Beutler E

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

Westwood B

Sipe B

References (12)

12 references, click to expand

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Polymorphic sites in the African population detected by sequence analysis of the glucose-6-phosphate dehydrogenase gene outline the evolution of the variants A and A-.
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Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00219170

Published

1992-07-00

Pages

485-6

Language

English

Region

Germany

NLM ID

7613873

Subset

Grants

NHLBI NIH HHS · HL25552 · United States

External Links

PubMed source DOI: 10.1007/BF00219170 View journal details

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A new polymorphic site in the G6PD gene.

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