title: alpha 1-Antitrypsin quantitative and qualitative (Pi phenotyping) characterization in Down syndrome subjects and in their parents.
abstract: Quantitative characterization and alpha 1-antitrypsin (alpha 1AT) Pi phenotyping by isoelectric focusing (IEF) and immunofixation electrophoresis (IFE) were done on 84 patients with trisomy 21, divided into two groups, and on their parents. Group A consisted of 42 subjects whose parents were less than 30 years at the time of the patient's birth; group B, of 42 subjects whose parents were more than 35 years. The results were compared with those found in a group of normal subjects. Statistical analysis of the Pi phenotype distribution and the frequency of variant phenotypes does not support a causal relationship between the Pi phenotype and the chromosomal errors responsible for Down syndrome.
mesh_terms: D000328:Adult; D000367:Age Factors; D002648:Child; D002675:Child, Preschool; D004314:Down Syndrome / Q000201:enzymology* / Q000209:etiology; D005260:Female; D006801:Humans; D007122:Immunoelectrophoresis; D007223:Infant; D007231:Infant, Newborn; D007525:Isoelectric Focusing; D008297:Male; D010641:Phenotype; D011110:Polymorphism, Genetic; D000515:alpha 1-Antitrypsin / Q000032:analysis / Q000235:genetics*
chemical_list: D000515:alpha 1-Antitrypsin