Literature DB >> 315909

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

P Kühnl, W Spielmann.   

Abstract

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.

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Year:  1979        PMID： 315909     DOI： 10.1007/bf00390245

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


  6 in total

1.  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

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.  A third common allele in the transferrin system, TfC3, detected by isoelectric focusing.

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

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

Authors:  R R Frants; A W Eriksson
Journal:  Hum Hered       Date:  1978       Impact factor: 0.444

6.  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
  6 in total
  5 in total

1.  PI Scologne: a new variant in the alpha-1-antitrypsin system.

Authors:  W Weber; S Weidinger
Journal:  Hum Genet       Date:  1988-09       Impact factor: 4.132

2.  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

3.  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

4.  Identification and DNA sequence analysis of 15 new alpha 1-antitrypsin variants, including two PI*Q0 alleles and one deficient PI*M allele.

Authors:  J P Faber; W Poller; S Weidinger; M Kirchgesser; R Schwaab; F Bidlingmaier; K Olek
Journal:  Am J Hum Genet       Date:  1994-12       Impact factor: 11.025

5.  Alpha 1-antitrypsin and survival in hepatocellular carcinoma.

Authors:  A Tzonou; L Sparos; V Kalapothaki; X Zavitsanos; A Rebelakos; D Trichopoulos
Journal:  Br J Cancer       Date:  1990-01       Impact factor: 7.640
  5 in total

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