Literature DB >> 965002

A new, high frequency variant of alpha1-antitrypsin.

W G van den Broek, J J Hoffmann, J H Dijkman.   

Abstract

A new variant of alpha1-antitrypsin has been detected with the aid of isoelectric focusing on polyacrylamide slab gels. In contrast with many other variants this new alpha1-antitrypsin allele is found in 10-15% of the phenotypes examined. The electrophoretic properties of the new alpha1-antitrypsin variant in isofocusing polyacrylamide gels differ only slightly from the most common alpha1-antitrypsin allele M. On the basis of its electroforetic behaviour we propose the term MN to indicate this new protease inhibitor variant. The isofocusing technique employed, provides an easy to handle, very reproducible method for determining the alpha1-antitrypsin phenotype and can be employed for large scale screening.

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Year:  1976        PMID: 965002     DOI: 10.1007/BF00284429

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  9 in total

1.  The polymorphism of "prealbumins" and alpha-1-antitrypsin in human sera.

Authors:  M K Fagerhol; C B Laurell
Journal:  Clin Chim Acta       Date:  1967-05       Impact factor: 3.786

2.  Analysis of plasma 1 -antitrypsin variants and their microheterogeneity.

Authors:  C B Laurell; U Persson
Journal:  Biochim Biophys Acta       Date:  1973-06-15

3.  Purification and properties of normal human alpha 1-antitrypsin.

Authors:  I P Crawford
Journal:  Arch Biochem Biophys       Date:  1973-05       Impact factor: 4.013

4.  New stain fixative for proteins separated by gel isoelectric focusing based on Coomassie Brilliant Blue.

Authors:  N Malik; A Berrie
Journal:  Anal Biochem       Date:  1972-09       Impact factor: 3.365

5.  [Polymorphism of plasma alpha 1 antitrypsin (Pi system). Demonstration by electrofocusing on polyacrylamide gel].

Authors:  P Arnaud; C Chapuis-Cellier; R Creyssel
Journal:  C R Seances Soc Biol Fil       Date:  1974

6.  Cirrhosis associated with alpha-1-antitrypsin deficiency: a previously unrecognized inherited disorder.

Authors:  H L Sharp; R A Bridges; W Krivit; E F Freier
Journal:  J Lab Clin Med       Date:  1969-06

7.  Immunochemical quantitation of antigens by single radial immunodiffusion.

Authors:  G Mancini; A O Carbonara; J F Heremans
Journal:  Immunochemistry       Date:  1965-09

8.  Quantitative studies on the inherited variants of serum alpha-1-antitrypsin.

Authors:  M K Fagerhol
Journal:  Scand J Clin Lab Invest       Date:  1969-02       Impact factor: 1.713

9.  [Study of genetic variants of alpha 1-antitrypsin in bidimensional immuno-electrofocusing].

Authors:  J Lebas; A Hayem; J P Martin
Journal:  C R Acad Hebd Seances Acad Sci D       Date:  1974-04-29
  9 in total
  9 in total

1.  New phenotypes of serum alpha1-antitrypsin in Japanese detected by gel slab isoelectric focusing.

Authors:  S Harada; K Miyake; H Suzuki; T Oda
Journal:  Hum Genet       Date:  1977-10-14       Impact factor: 4.132

2.  Alpha1-antitrypsin: further genetic heterogeneity revealed by isoelectric focusing.

Authors:  F Kueppers; M J Christopherson
Journal:  Am J Hum Genet       Date:  1978-07       Impact factor: 11.025

3.  Classification of alpha1-antitrypsin (Pi) phenotypes by isoelectrofocusing. Distinction of six subtypes of the PiM phenotype.

Authors:  T Genz; J P Martin; H Cleve
Journal:  Hum Genet       Date:  1977-10-14       Impact factor: 4.132

4.  PiT: a new allele in the alpha 1-antitrypsin system.

Authors:  P Kühnl; W Spielmann
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

5.  Epidemiology of alpha 1-antitrypsin deficiency in the Netherlands.

Authors:  J H Dijkman; T J Penders; J A Kramps; H J Sonderkamp; W G van den Broek; B G ter Haar
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

6.  Structural difference between the normal PiM1 and the common PiM2 variant of human alpha 1-antitrypsin.

Authors:  A Yoshida; J C Taylor; W G van den Brock
Journal:  Am J Hum Genet       Date:  1979-09       Impact factor: 11.025

7.  Characterization of alpha-1-antitrypsin by isoelectric focusing on an ultrathin polyacrylamide gel layer. An economic high-resolution system for determining PiM subtypes.

Authors:  G Massi; A Fabiano; D Ragusa; P Auconi
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

8.  New variants of alpha 1-antitrypsin: comparison of Pi typing techniques.

Authors:  D W Cox
Journal:  Am J Hum Genet       Date:  1981-05       Impact factor: 11.025

9.  Deletion 14q(q24.3 to q32.1) syndrome: significance of peculiar facial appearance in its diagnosis, and deletion mapping of Pi(alpha 1-antitrypsin).

Authors:  Y Yamamoto; R Sawa; N Okamoto; A Matsui; M Yanagisawa; S Ikemoto
Journal:  Hum Genet       Date:  1986-10       Impact factor: 4.132

  9 in total

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