澳大利亚人群中的抗蛋白酶与唐氏综合征
Antiproteases and Down's syndrome in an Australian population.
作者信息
McPhee H, Ananthakrishnan R, Taft L I
出版信息
J Med Genet. 1980 Jun;17(3):170-3. doi: 10.1136/jmg.17.3.170.
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.
对澳大利亚的286名唐氏综合征患者、296名新生儿和193名非特异性智力发育迟缓患者群体测定了α1 -抗胰蛋白酶表型和α2 -巨球蛋白浓度。各群体之间在表型分布或杂合度水平上没有显著差异。对照组中表型频率为PiMM 89.5%、PiMS 8.0%和PiMZ 1.0%。对α2 -巨球蛋白平均浓度进行了研究，结果表明，与PiMS、PiSS和PiMM相比，PiMZ表型的浓度更高，新生儿为2.67±0.27 g/l，唐氏综合征患者为2.74±0.32 g/l。
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