Genetic regulation of alpha-1-antitrypsin levels in the neonatal period: The influence of the PiS allele and the PiM subtypes
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Five groups of full-term newborn infants divided on the basis of the subtypes of M and one group of full-term newborn infants belonging to the phenotype M1S have been studied.
A decrease in alpha-1-antitrypsin level in the M1S newborn infants was observed (P<0.001). A similar decrease was observed in a group of M1S preterm newborn infants in comparison with M1M1 and M2M2 newborn infants of the same gestational age.
Moreover, full-term infants belonging to the subtype M1M2 also showed a decrease in the level of this inhibitor in comparison to the full-term infants belonging to other subtypes of M (P<0.01). Preterm newborn infants belonging to subtypes M1M2 and M1M1 showed identical circulating alpha-1-antitrypsin levels.
When the phenotype is taken into account, data obtained from newborn infants free from perinatal pathology show that alpha-1-antitrypsin levels—but not alpha-2-macroglobulin levels—increase with fetal age.
Moreover the specific compensatory response to the deficiency, consisting in an increase in alpha-2-macroglobulin levels, is absent in M1S and M1M2 neonates.
The wide distribution of the M1M2 subtypes and, in some regions of the MS phenotype, suggests a need for genetic typing of the alpha-1-antitrypsin molecule in investigating the behaviour of this inhibitor in the perinatal period.
Key wordsNewborn infant Alpha-1-antitrypsin phenotypes Alpha-2-macroglobulin M subtypes
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