Literature DB >> 309724

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

F Kueppers, M J Christopherson.   

Abstract

Alpha1-antitrypsin is a major human serum protein that shows an extensive polymorphism. Genetic heterogeneity has previously been demonstrated by starch gel electrophoresis. By applying analytical isoelectric focusing (pH 3.5--5.0) to this system, we found a common variant, Pi M3, with an isoelectric point between those of Pi M1 and Pi M2. The gene frequency of this variant was .11 in U.S. whites and .054 in blacks. When PiM3 and PiM1 are included in the Pi system, the heterozygosity at the Pi locus is five times greater in whites and 10 times greater in blacks than that detected by earlier electrophoretic techniques.

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Year:  1978        PMID： 309724      PMCID： PMC1685616     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  16 in total

1.  Racial distribution of alpha1-antitrypsin variants among junior high school students.

Authors:  J Lieberman; L Gaidulis; L Roberts
Journal:  Am Rev Respir Dis       Date:  1976-12

2.  ANTIGEN-ANTIBODY CROSSED ELECTROPHORESIS.

Authors:  C B LAURELL
Journal:  Anal Biochem       Date:  1965-02       Impact factor: 3.365

3.  Antitrypsin phenotypes in St. Louis.

Authors:  J A Pierce; B Eradio; T A Dew
Journal:  JAMA       Date:  1975-02-10       Impact factor: 56.272

4.  A new, high frequency variant of alpha1-antitrypsin.

Authors:  W G van den Broek; J J Hoffmann; J H Dijkman
Journal:  Hum Genet       Date:  1976-09-10       Impact factor: 4.132

5.  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

6.  Inherited variants of alpha1-antitrypsin: a new allele PiN.

Authors:  D W Cox; L Celhoffer
Journal:  Can J Genet Cytol       Date:  1974-06

7.  Alpha 1-antitrypsin polymorphism of a Bantu population: description of a new allele PiL.

Authors:  D Vandeville; J P Martin; C Ropartz
Journal:  Humangenetik       Date:  1974-01-22

8.  Immunochemical quantitation of antigens by single radial immunodiffusion.

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

9.  Population genetics of alpha1-antitrypsin in the Netherlands. Description of a new electrophoretic variant.

Authors:  E C Klasen; C Franken; W S Volkers; L F Bernini
Journal:  Hum Genet       Date:  1977-07-26       Impact factor: 4.132

10.  alpha1-antitrypsin: common subtypes of Pi M.

Authors:  R R Frants; A W Eriksson
Journal:  Hum Hered       Date:  1976       Impact factor: 0.444
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  21 in total

1.  Gametic equilibrium between 24 polymorphic markers.

Authors:  J L Hernández; R C Elston; L J Ward
Journal:  Hum Genet       Date:  1990-08       Impact factor: 4.132

2.  Characterization of the gene and protein of the common alpha 1-antitrypsin normal M2 allele.

Authors:  T Nukiwa; M L Brantly; F Ogushi; G A Fells; R G Crystal
Journal:  Am J Hum Genet       Date:  1988-09       Impact factor: 11.025

3.  Frequency and significance of phenotypes for alpha1-antitrypsin deficiency in type 1 autoimmune hepatitis.

Authors:  A J Czaja
Journal:  Dig Dis Sci       Date:  1998-08       Impact factor: 3.199

4.  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

5.  An alpha 1-antitrypsin variant, Pi B Alhambra (Lys to Asp, Glu to Asp), with rapid anodal electrophoretic mobility.

Authors:  A Yoshida; R Chillar; J C Taylor
Journal:  Am J Hum Genet       Date:  1979-09       Impact factor: 11.025

6.  Distribution of alpha 1-antitrypsin (PI) phenotypes in chromosome abnormalities.

Authors:  J C Mulley; G R Sutherland
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

7.  PI(alpha 1-antitrypsin) polymorphism in the Japanese: confirmation of PI*M4 and description of new PI variants.

Authors:  I Yuasa; K Suenaga; Y Gotoh; K Ito; N Yokoyama; K Okada
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

8.  Pulmonary emphysema associated with the FZ alpha 1-antitrypsin phenotype.

Authors:  D W Cockcroft; R K Tennent; S L Horne
Journal:  Can Med Assoc J       Date:  1981-03-15       Impact factor: 8.262

9.  Pi subtyping by isoelectric focusing: further genetic studies and application to paternity examinations.

Authors:  S Weidinger; F Schwarzfischer; H Cleve
Journal:  Z Rechtsmed       Date:  1980

10.  Alpha 1-antitrypsin: apparent molecular weight heterogeneity shown by two-dimensional electrophoresis.

Authors:  W T Brown
Journal:  Am J Hum Genet       Date:  1982-03       Impact factor: 11.025
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