Summary
The phenotype distribution and gene frequencies of serum α 1-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 α 1-antitrypsin was compared among three different phenotypic groups (M1, M1M2, M2). Statistically significant quantitative differences were found among these three groups (P<0.01).
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Harada, S., Miyake, K., Suzuki, H. et al. New phenotypes of serum α 1-antitrypsin in Japanese detected by gel slab isoelectric focusing. Hum. Genet. 38, 333–336 (1977). https://doi.org/10.1007/BF00402160
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DOI: https://doi.org/10.1007/BF00402160