Antiproteases and Down's syndrome in an Australian population

J Med Genet. 1980 Jun;17(3):170-3. doi: 10.1136/jmg.17.3.170.

Abstract

alpha 1-Antitrypsin phenotypes and alpha 2-macroglobulin concentrations were determined for an Australian population of 286 Down's syndrome patients, 296 newborn babies, and 193 patients with non-specific mental retardation. There was no significant difference between the groups in the distribution of the phenotypes or level of heterozygosity. The phenotypic frequencies were 89.5% PiMM, 8.0% PiMS and 1.0% PiMZ among controls. The mean alpha 2-macroglobulin concentrations were investigated and it was shown that PiMZ phenotypes had a higher concentration, 2.67 +/- 0.27 g/l (newborns) and 2.74 +/- 0.32 g/l (Down's syndrome), in comparison with PiMS, PiSS, and PiMM.

MeSH terms

  • Adult
  • Alleles
  • Down Syndrome / enzymology*
  • Electrophoresis, Polyacrylamide Gel
  • Female
  • Fetal Blood
  • Gene Frequency*
  • Humans
  • Infant, Newborn
  • Intellectual Disability / enzymology*
  • Isoelectric Focusing
  • Phenotype
  • alpha 1-Antitrypsin / genetics*
  • alpha-Macroglobulins / genetics*

Substances

  • alpha 1-Antitrypsin
  • alpha-Macroglobulins