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. 1976 Sep;28(5):496–505.

Variability of red cell phenotypes between and within individuals in an unbiased sample of 77 heterozygotes for G6PD deficiency in Sardinia.

A Rinaldi, G Filippi, M Siniscalco
PMCID: PMC1685117  PMID: 984045

Abstract

The distribution of G6PD red blood phenotypes in an unbiased sample of 77 Sardinian certain heterozygotes for the GdMediterranean mutant was found to be skewed in favor of the G6PD (+) cells. Four of these individuals exhibited the normal hemizygous phenotype in all of their cells, but two of them had a mosaic population of G6PD (+) and (-) red blood cells when reexamined after 1 year. These findings suggest that somatic selection may be the main factor determining the phenotype variability of individual somatic cells in highly differentiated tissues of heterozygotes at the G6PD locozygotes for the GdMediterranean mutant should not be used as a criterion for precise estimation of the embryonic or stem tissue cell pool at X inactivation.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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