𝔖 Bobbio Scriptorium
✦   LIBER   ✦

PiT: A new allele in the alpha1-antitrypsin system

✍ Scribed by P. Kühnl; W. Spielmann

Publisher
Springer
Year
1979
Tongue
English
Weight
172 KB
Volume
50
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.

✦ Synopsis

In a genetic investigation of the population in Hessen, Germany, we found a family with a new, rare allele in the Pi system (alpha 1-antitrypsin). According to electrophoretic analysis and isoelectric focusing patterns, it is designated PiT. A pedigree study suggests autosomal codominant inheritance. The serum concentration of six heterozygous carriers of this allele (phenotype M1T or M2T) revealed normal alpha 1-antitrypsin levels.

📜 SIMILAR VOLUMES

Molecular characterization of the new de
Molecular characterization of the new defective Pbrescia alpha1-antitrypsin allele
✍ Daniela Medicina; Nadia Montani; Anna M. Fra; Laura Tiberio; Luciano Corda; Elen 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 434 KB

Alpha1-antitrypsin (α 1 AT) deficiency is a hereditary disorder associated with reduced α 1 AT serum level, predisposing adults to pulmonary emphysema. Among the known mutations of the α 1 AT gene (SERPINA1) causing α 1 AT deficiency, a few alleles, particularly the Z allele, may also predispose adu

PI Scologne: a new variant in the alpha-
PI Scologne: a new variant in the alpha-1-antitrypsin system
✍ W. Weber; S. Weidinger 📂 Article 📅 1988 🏛 Springer 🌐 English ⚖ 166 KB

The detection of PI Scologne, a rare variant in the alpha-1-antitrypsin system, by means of isoelectric focusing is described.

Alpha1-antitrypsin: Evidence for a fourt
Alpha1-antitrypsin: Evidence for a fourth PiM allele. Distribution of the PiM subtypes in Southern Germany
✍ Weidinger, S. ;Cleve, H. ;Patutschnick, W. 📂 Article 📅 1982 🏛 Springer-Verlag 🌐 English ⚖ 928 KB

Subtypes of the protease inhibitor (Pi) cq-antitrypsin were determined in sera from 752 unrelated individuals from Southern Germany. By isoelectric focusing nine common PiM subtypes were distinguished and several rare Pi variants were observed. Family studies confirm the existence of a fourth Pi M s