PI LBEI and PI JHOU: two new alpha-1-antitrypsin alleles
β Scribed by Qi-long Ying; Chih-chuan Liang; Mei-lin Zhang
- Publisher
- Springer
- Year
- 1984
- Tongue
- English
- Weight
- 541 KB
- Volume
- 68
- Category
- Article
- ISSN
- 0340-6717
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β¦ Synopsis
Two new variants of alpha-1-antitrypsin were found in a Chinese population by isoelectric focusing in polyacrylamide gel. They have been named Lbeijing (PI*LBEI) and Jhouyao (PI*JHOU) respectively. With the samples reduced and alkylated, both the variants were anodal to M1 and cathodal to L. Omitting the alkylation step, however, the relative mobilities of L and Jhouyao were altered. Under this condition, a characteristic of Jhouyao was revealed by isoelectric focusing in immobilized pH gradient 4.4-4.9, i.e., while its band 6 became anodal to L, band 4 was still cathodal to L.
π SIMILAR VOLUMES
The detection of PI Scologne, a rare variant in the alpha-1-antitrypsin system, by means of isoelectric focusing is described.
Three mutations causing alpha-1-antitrypsin deficiency have been identified by gene amplification and direct DNA sequencing. In the Pi (proteinase-inhibitor) nullcardiff gene, the codon for aspartate at position 256 has mutated to encode valine. In PiMmalton and Pi I, the respective mutations are th