The Gm‐Pi linkage heterogeneity in view of Pi M subtypes

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Abstract
SUMMARY: In this study linkage between the loci for Gm (γ‐type heavy‐chain immunoglobulin markers) and Pi (α1‐antitrypsin/α1‐protease inhibitor) has been shown in families segregating for the Pi M subtypes (Ml, M2, M3 and Msal) as identified by separator isoelectric focusing. The estimate for the Gm‐Pi (M‐type) recombination is 0‐29 (95% limits 0‐24‐O37) at a peak lod score of 4‐31 and with no sex difference. This value is not significantly different from updated recombination frequency estimates for Gm‐Pi in Pi MS (0‐26) and Pi MZ, SZ and FZ families (0 21). The overall Gm‐Pi recombination fraction estimate of 0 26 (95 % limits O23‐0‐30) at a peak lod score of 20‐75 must now be considered as solid. There is a significant heterogeneity within the male Pi MZ families in that the new Finnish families show a higher recombination between Gm and Pi. There is also a possible segregation distortion (Z:M= 23:8). The heterogeneity is discussed in terms of haplotypes, the behaviour of which could be determined by linked genes or chromosomal rearrangements. The possibility that the α1‐antitrypsin level influences recombination frequency has not been ruled out, but cannot explain the heterogeneity within Pi MZ families.

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