Both mutations in G6PD A- are necessary to produce the G6PD deficient phenotype.

@article{Town1992BothMI,
  title={Both mutations in G6PD A- are necessary to produce the G6PD deficient phenotype.},
  author={Margaret Town and Jos{\'e} Mar{\'i}a Bautista and P. J. Mason and Lucio Luzzatto},
  journal={Human molecular genetics},
  year={1992},
  volume={1 3},
  pages={171-4}
}
The high prevalence of glucose 6-phosphate dehydrogenase (G6PD) deficiency in African populations is due almost entirely to the enzyme variant A-, which differs from the wild-type G6PD B by two amino acid replacements, 68 Val-->Met and 126 Asn-->Asp. The non-deficient polymorphic variant G6PD A contains only the mutation 126 Asn-->Asp. The frequencies of the G6PD A and of the G6PD A- genes in parts of Africa are both about 0.2. The 68 Val-->Met mutation has not been found in a B background… CONTINUE READING

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