Pi‐Gm LINKAGE: EVIDENCE FOR LINKAGE IN MALES BUT NOT IN FEMALES AND FOR AN EFFECT OF THE S ALLELE OF THE Pi SYSTEM

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Abstract
Linkage between the Pi (.alpha.1-antitrypsin) and Gm (Ig H chain) loci was studied in 34 families including 41 informative parents and 142 children. In females, the results did not provide evidence for linkage (posterior probability of non-linkage 0.98). In males, there was strong evidence for linkage (peak lod 3.9 at .theta. = 0.18, posterior probability of linkage 0.98). The 2 populations appeared to be significantly different (0.001 < P < 0.01) with respect to the heterogeneity criterion of Morton. The effect of the possession of the S allele (associated with significantly decreased serum .alpha.1-antitrypsin levels) was studied in 15 informative parents and 53 children of the same group. No evidence for or against linkage was found in females, but in males close linkage between Pi S and Gm was demonstrated (peak lod 7.7 at .theta. = 0.05, posterior probability of linkage 0.9999). The Pi and Gm loci are significantly linked in males but not in females. There is close linkage between the Pi S and Gm markers in males.