Antiproteases and Down's syndrome in an Australian population.
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.
D000328:Adult; D000483:Alleles; D004314:Down Syndrome / Q000201:enzymology*; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D005312:Fetal Blood; D005787:Gene Frequency; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000201:enzymology*; D007525:Isoelectric Focusing; D010641:Phenotype; D000515:alpha 1-Antitrypsin / Q000235:genetics*; D000511:alpha-Macroglobulins / Q000235:genetics*
D000515:alpha 1-Antitrypsin; D000511:alpha-Macroglobulins