Abstract
Some 40% of birth weight variation can be attributed to genetic factors, half of them being fetal and the other half maternal. "Normal variation" would give a 10% contribution to the small-for-dates population. The distribution of phosphoglucomutase 1 (PGM1), adenosine deaminase (ADA), erythrocyte acid phosphatase (ACP1) and adenilatekinase (AK) polymorphisms was studied in 91 low birth weight infants (LBWI). ACP1 and ADA gene frequency distribution in LBWI showed a significant increase (p<0.01 and p<0.05) of the proportions of the more common alleles (Pb and ADA1) and a reduction of heterozygotes as compared to adults or unselected newborn. The presence of multiple molecular forms of enzymes may protect the delicate balance of the developing zygote against the deleterious effects of environmental variations. Therefore the present data suggest that the (low) degree of heterozygosity for enzyme polymorphisms may represent a significant part of "normal variation" contribution to the low birth weight population.
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Varveri, A., Lucarelli, P., Santoro, F. et al. Low birth weight infants: evidence of decreased genetic variability. Pediatr Res 13, 81 (1979). https://doi.org/10.1203/00006450-197901000-00069
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DOI: https://doi.org/10.1203/00006450-197901000-00069