Literature DB >> 306379

Reliable classification of six Pi M subtypes by separator isoelectric focusing.

R R Frants, A W Eriksson.   

Abstract

For the first time, segregation of three common PiM alleles in family material is verified by application of separator isoelectric focusing. A new nomenclature system for the Pi M subtypes is used, whereby the common subtypes are designated according to their physicochemical properties; the most anodal type is called Pi M1, the intermediary one Pi M2, and the most cathodal variant Pi M3 (previously called Pi M2). Pi gene frequencies from Finnish, Dutch and Black populations are presented. The PiM2 allele was rather high in Finns (0.12) but low (0.04) in the West African Bozo. The PiM3 was found with a frequency of 0.13 in Dutch, 0.08 in Finns and 0.02 in Bozo. A previous Finnish sample was retested with the new subtyping method and the six-subtype distribution was found to be in good Hardy-Weinberg equilibrium. The validity of the Pi polymorphism for population genetics, linkage analysis and parentage testing is discussed.

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Year:  1978        PMID: 306379     DOI: 10.1159/000152959

Source DB:  PubMed          Journal:  Hum Hered        ISSN: 0001-5652            Impact factor:   0.444


  20 in total

1.  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

2.  Genetic studies on a new deficiency gene (PI*Ztun) at the PI locus.

Authors:  D B Whitehouse; C M Abbott; J U Lovegrove; I McIntosh; C J McMahon; G Mieli-Vergani; A P Mowat; D A Hopkinson
Journal:  J Med Genet       Date:  1989-12       Impact factor: 6.318

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

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

4.  Improved resolution of PI (alpha 1-antitrypsin) phenotypes by a large-scale immobilized pH gradient.

Authors:  A Görg; W Postel; J Weser; W Patutschnick; H Cleve
Journal:  Am J Hum Genet       Date:  1985-09       Impact factor: 11.025

5.  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

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.  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

9.  Alpha 1-antitrypsin and acute anterior uveitis.

Authors:  K M Saari; J Solja; M Sirpelä; R R Frants; A W Eriksson
Journal:  Albrecht Von Graefes Arch Klin Exp Ophthalmol       Date:  1981

10.  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

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