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.
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- Aarskog D., Fagerhol M. K. Protease inhibitor (Pi) phenotypes in chromosome aberrations. J Med Genet. 1970 Dec;7(4):367–370. doi: 10.1136/jmg.7.4.367. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Arnaud P., Burdash N. M., Wilson G. B., Fudenberg H. H. Alpha-1-antitrypsin (Pi) types in Down's syndrome. Clin Genet. 1976 Oct;10(4):239–243. doi: 10.1111/j.1399-0004.1976.tb00041.x. [DOI] [PubMed] [Google Scholar]
- Ball J. R., Brackenridge C. J., McKay H., Pitt D. B. Haptoglobin distributions in Down's syndrome. Clin Genet. 1972;3(5):334–340. doi: 10.1111/j.1399-0004.1972.tb01465.x. [DOI] [PubMed] [Google Scholar]
- Brackenridge C. J., Pitt D. B., Sheehy A. J. The distribution of genetic polymorphisms in patients with Down's syndrome. Clin Genet. 1974;5(5):414–419. doi: 10.1111/j.1399-0004.1974.tb01714.x. [DOI] [PubMed] [Google Scholar]
- Cook P. J. The genetics of alpha1-antitrypsin: a family study in England and Scotland. Ann Hum Genet. 1975 Jan;38(3):275–287. doi: 10.1111/j.1469-1809.1975.tb00611.x. [DOI] [PubMed] [Google Scholar]
- Evans H. E., Bognacki N. S., Perrott L. M., Glass L. Prevalence of of alpha 1-antitrypsin Pi types among newborn infants of different ethnic backgrounds. J Pediatr. 1977 Apr;90(4):621–624. doi: 10.1016/s0022-3476(77)80384-3. [DOI] [PubMed] [Google Scholar]
- Fineman R. M., Kidd K. K., Johnson A. M., Breg W. R. Increased frequency of heterozygotes for alpha1 antitrypsin variants in individuals with either sex chromosome mosaicism or trisomy 21. Nature. 1976 Mar 25;260(5549):320–321. doi: 10.1038/260320a0. [DOI] [PubMed] [Google Scholar]
- Kueppers F. Determination of alpha1-antitrypsin phenotypes by isoelectric focusing in polyacrylamide gels. J Lab Clin Med. 1976 Jul;88(1):151–155. [PubMed] [Google Scholar]
- Kueppers F., O'Brien P., Passarge E., Rüdiger H. W. Alpha1-antitrypsin phenotypes in sex chromosome mosaicism. J Med Genet. 1975 Sep;12(3):263–264. doi: 10.1136/jmg.12.3.263. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Rynbrandt D. J., Ihrig J., Kleinerman J. Serum trypsin inhibitory capacity and Pi phenotypes. I. Methods and control values. Am J Clin Pathol. 1975 Feb;63(2):251–260. doi: 10.1093/ajcp/63.2.251. [DOI] [PubMed] [Google Scholar]
- Twumasi D. Y., Liener I. E., Galdston M., Levytska V. Activation of human leukocyte elastase by human alpha2-macroglobulin. Nature. 1977 May 5;267(5606):61–63. doi: 10.1038/267061a0. [DOI] [PubMed] [Google Scholar]