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By Magne K. Fagerhol, Diane Wilson Cox (auth.), Harry Harris, Kurt Hirschhorn (eds.)

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Extra resources for Advances in Human Genetics 11

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In newborns. , 1975. S. S. S. S. black Eskimo (Northwest Territories) Other Somalia Bantu New Zealand Maori" Population Pi alleles TABLE II. ADele Frequencies in Selected Populations .. " 0 :!! CD :::r ~ CD ~ ...... 0 :::r II Magne K. Fagerhol and Diane Wilson Cox 16 TABLE III. S. S. 04 2 I 3 4 5 6 6 I a Estimate. , 1979; (4) Genz Pi type MS. , 1977; (5) Cox, 1977; (6) Kueppers and Christopherson. 1978. North American populations, but is still only about half of that found in Spain and Portugal.

The extent of clinical variation is not entirely accounted for by smoking history, and other factors, possibly genetic, must be involved (Black and Kueppers, 1978). The relative risk for Pi Z individuals to develop COPD has not been determined. However, in a Swedish study of individuals of Pi type Z, 39% of patients under 40, and 85% of patients over 40, developed COPD (Larsson, 1978). However, this study is biased because of ascertainment Chapter 1: The Pi Polymorphism 35 through hospital admission, so the risk figures are too high.

Several possible explanations for heterogeneity were proposed by Gedde-Dahl et at. (1975). There is no evidence for more than one Pi locus. The specific amino acid substitutions in Pi Sand Z types of

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