Independent origin of single and double mutations in the human glucose 6-phosphate dehydrogenase gene

Human Mutation
Tom J VulliamyJ L Vives-Corrons

Abstract

The vast majority of both polymorphic and sporadic G6PD variants are due to single missense mutations. In the four polymorphic variants that have two point mutations, one of the mutations is always 376 A-->G (126 Asn-->Asp), which on its own gives rise to the nondeficient polymorphic variant, G6PD A. In a study of G6PD deficient patients who presented with clinical favism in Spain, we have found a new polymorphic variant that we have called G6PD Malaga, whose only abnormality is a 542 A-->T (181 Asp-->Val) mutation. This is the same mutation as previously found in association with the mutation of G6PD A in the double mutant, G6PD Santamaria. G6PD Malaga is associated with enzyme deficiency (class III), and the enzymic properties of G6PD Malaga and G6PD Santamaria are quite similar, indicating that in this case the effects of the two mutations are additive rather than synergistic. G6PD Santamaria might have been produced by recombination between G6PD A and G6PD Malaga; however haplotype analysis, including the use of a new silent polymorphism, suggests that the same 542 A-->T mutation has taken place independently in a G6PD B gene to give G6PD Malaga and in a G6PD A gene to give G6PD Santamaria. These findings help to outline th...Continue Reading

References

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Oct 1, 1991·Proceedings of the National Academy of Sciences of the United States of America·T J VulliamyL Luzzatto

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Citations

Jun 28, 2001·Leukemia & Lymphoma·L F LinczA Spencer
Dec 24, 2010·European Journal of Haematology·Shrimati ShettyKanjaksha Ghosh
Aug 22, 2012·Acta Haematologica·Suleimman A Al-Sweedan, Nor Awwad
Oct 4, 2018·Nature Communications·Sunhee HwangDaria Mochly-Rosen
Oct 24, 2000·Blood Cells, Molecules & Diseases·E ArámbulaG Vaca
Aug 1, 1997·Blood Cells, Molecules & Diseases·T BulliamyE Beutler
Jun 18, 2002·Blood Cells, Molecules & Diseases·Ernest Beutler, Tom J Vulliamy
Jul 21, 2001·Science·L Luzzatto, R Notaro
Nov 30, 2021·Annals of Human Genetics·Lourdes Del Carmen Rizo-delaTorreFrancisco Javier Perea-Díaz

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