Harada S, Miyake K, Suzuki H, Oda T
Hum Genet. 1977 Oct 14;38(3):333-6. doi: 10.1007/BF00402160.
The phenotype distribution and gene frequencies of serum alpha1-antitrypsin in 856 healthy blood donors in Tokyo were examined by gel slab isoelectric focusing (pH 4--6). The allele of the common subtype variant Pi M2 was present with a frequency of 0.1099 in Japanese. A study of 23 twin pairs and their parents was in agreement with the hypothesis of autosomal codominant inheritance of Pi M subtypes. Other rare variant alleles, Pi MF, Pi MS, Pi MN, Pi mv, Pi MX, Pi MZ were found in very low frequencies. The total concentration of serum alpha1-antitrypsin was compared among three different phenotypic groups (M1, M1M2, M2). Statistically significant quantitative differences were found among these three groups (P less than 0.01).
采用凝胶平板等电聚焦法（pH 4 - 6）检测了东京856名健康献血者血清α1 - 抗胰蛋白酶的表型分布及基因频率。常见亚型变异体Pi M2的等位基因在日本人中的频率为0.1099。对23对双胞胎及其父母的研究结果与Pi M亚型常染色体共显性遗传假说相符。还发现了其他罕见变异等位基因，如Pi MF、Pi MS、Pi MN、Pi mv、Pi MX、Pi MZ，但其频率极低。比较了三种不同表型组（M1、M1M2、M2）血清α1 - 抗胰蛋白酶的总浓度。这三组之间存在统计学上的显著定量差异（P < 0.01）。
