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Relationships between DNA and protein polymorphisms of apolipoprotein B

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Summary

The associations between four restriction fragment length polymorphisms (RFLPs) of the gene for human apolipoprotein B (apo B) and five antigen group (Ag) protein-polymorphisms of apo B have been investigated in 24 unrelated Finnish individuals. In this sample a complete correlation exists between the EcoRI RFLP and the Ag(t/z) polymorphism. There is strong association between the alleles of the XbaI RFLP and Ag(c/g) and a weaker one of the same XbaI site with Ag(x/y). Linkage disequilibrium is observed between the PvuII RFLP and the Ag(a1/d) polymorphism. These associations confirm that the Ag variants are true protein sequence polymorphisms of apo B.

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Dunning, A.M., Tikkanen, M.J., Ehnholm, C. et al. Relationships between DNA and protein polymorphisms of apolipoprotein B. Hum Genet 78, 325–329 (1988). https://doi.org/10.1007/BF00291728

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