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Intragenic Recombination within the Alpha-1-Antitrypsin Locus

  • G. Wetterling
Conference paper
Part of the Advances in Forensic Haemogenetics book series (HAEMOGENETICS, volume 4)

Abstract

The alpha-1-antitrypsin (Pi) system displays more than 60 alleles. The Mallele is the most frequent with a frequency of 0.9463 in a Swedish population (Hjalmarsson 1988). More unusual alleles are the S, Z and F alleles. Furthermore, the M allele can be split into the suballeles Ml, M2 , M3 and M4 . The amino acid sequences have been determined by DNA sequencing and the following genetic model for the Pi M suballeles has been suggested (Long 1984; Nukiwa 1988; Crystal 1989; Graham 1990).

Keywords

Intragenic Recombination Paternity Case False Exclusion Unusual Allele Strand Stage 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. Bender K, Kasulke D, Mayerova A, Hummel K, Weidinger S, Epplen JT, Wienker TF (1991) New mutation versus exclusion at the alpha-1-antitrypsin locus: a multifaceted approach in a problematical paternity case. Hum Hered 41: 1–11PubMedCrossRefGoogle Scholar
  2. Crystal RG (1989) The alpha-antitrypsin gene and its deficiency states. Trends Genet 5: 411–417PubMedCrossRefGoogle Scholar
  3. Graham A, Hayes K, Wiedinger S, Newton CR, Markham AF (1990) Characterisation of the alpha-1-antitrypsin M3 gene, a normal variant. Hum Genet 85: 381–382PubMedGoogle Scholar
  4. Hjalmarsson K (1988) Distribution of alpha-1-antitrypsin phenotypes in Sweden. Hum Hered 38: 27–30PubMedCrossRefGoogle Scholar
  5. Long GL, Chandra T, Woo SLC, Davie EW, Kurachi K (1984) Complete sequence of the eDNA for human alpha-1-antitrypsin and the gene for the S variant. Biochemistry 23: 4828–4837PubMedCrossRefGoogle Scholar
  6. Nukiwa T, Brantly ML, Ogushi F, Fells GA, Crystal RG (1988) Characterization of the gene and protein of the common alpha-1-antitrypsin normal M2 allele. Am J Hum Genet 43: 322–330PubMedGoogle Scholar
  7. Weidinger S, Cleve H, Patutschick (1982) Alpha-1-antitrypsin: evidence for a fourth Pi M allele. Distribution of the PiM subtypes in southern Germany. Z Rechtsmed 88: 203–211PubMedCrossRefGoogle Scholar
  8. Wetterling G (1990) Intragenic recombination within the PGM1 locus. In Polesky HF, Mayr WR ( eds) Advances in Forensic Haemogenetics 3. Springer, Berlin Heidelberg, p 218Google Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1992

Authors and Affiliations

  • G. Wetterling
    • 1
  1. 1.Institute of Forensic SerologyUniversity HospitalLinköpingSweden

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