KUEPPERS F, BRISCOE W A, BEARN A G
Science. 1964 Dec 25;146(3652):1678-9. doi: 10.1126/science.146.3652.1678.
Deficiency of the serum alpha(1),-antitrypsin appears to be under genetic control. The level of this protein is reduced to less than 10 percent of the norm in individuals homozygous for the trait, who may suffer from pulmonary emphysema. Heterozygous individuals have a concentration of serum alpha(1)-antitrypsin between 50 and 60 percent of normal, but appear to be in good health. The estimated heterozygous frequency of the trait in a small white population in Georgia is 2.1 percent.
血清α1-抗胰蛋白酶缺乏似乎受遗传控制。在该性状的纯合个体中,这种蛋白质的水平降至正常水平的10%以下,这些个体可能患有肺气肿。杂合个体的血清α1-抗胰蛋白酶浓度在正常水平的50%至60%之间,但看起来健康状况良好。在佐治亚州的一个白人小群体中,该性状的估计杂合频率为2.1%。