New phenotypes of serumα1-antitrypsin in Japanese detected by gel slab isoelectric focusing

✍ Scribed by Shoji Harada; Kazuhiko Miyake; Hiroshi Suzuki; Toshitsugu Oda

• Publisher: Springer
• Year: 1977
• Tongue: English
• Weight: 194 KB
• Volume: 38
• Category: Article
• ISSN: 0340-6717
• DOI: 10.1007/bf00402160

✦ Synopsis

The phenotype distribution and gene frequencies of serum a~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 M F, Pi M s, Pi M ~, Pi M v, Pi M x, Pi M z were found in very low frequencies.

The total concentration of serum a~-antitrypsin was compared among three different phenotypic groups (M1, MIM2, M2). Statistically significant quantitative differences were found among these three groups (P< 0.01).