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Advances in Human Genetics 11 pp 1–62Cite as

The Pi Polymorphism

Genetic, Biochemical, and Clinical Aspects of Human α1-Antitrypsin

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Abstract

Few polymorphic plasma proteins have attracted more interest among scientists during the last ten years than the Pi (protease inhibitor) system of human α1-antitrypsin (α1 AT). There are several reasons for this interest. The Pi system was, from the beginning, associated with disease, which heralded the possibility of studying the pathogenetic mechanism leading to tissue damage. With the development of high-resolution techniques, the Pi system was soon shown to comprise more than 30 codominant alleles. Several of these alleles are polymorphic in many ethnic groups, thus providing a useful marker for population geneticists. The finding of linkage between the Pi system and the Gm system of human IgG has contributed to chromosome mapping and to studies on crossing-over processes. The Pi system may provide insight into selective forces.

An erratum to this chapter is available at http://dx.doi.org/10.1007/978-1-4615-8303-5_6

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Authors and Affiliations

  1. Ullevaal Hospital, Oslo, Norway

    Magne K. Fagerhol

  2. Research Institute, The Hospital for Sick Children, Toronto, Canada

    Diane Wilson Cox

  3. Departments of Paediatrics, Medical Genetics, and Medical Biophysics, University of Toronto, Toronto, Canada

    Diane Wilson Cox

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  1. Magne K. Fagerhol
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  1. University of Pennsylvania, Philadelphia, USA

    Harry Harris (Harnwell Professor Human Genetics) (Harnwell Professor Human Genetics)

  2. Mount Sinai School of Medicine, The City University of New York, USA

    Kurt Hirschhorn (Herbert H. Lehman Professor and Chairman of Pediatrics) (Herbert H. Lehman Professor and Chairman of Pediatrics)

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Fagerhol, M.K., Cox, D.W. (1981). The Pi Polymorphism. In: Harris, H., Hirschhorn, K. (eds) Advances in Human Genetics 11. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-8303-5_1

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