Apolipoprotein B gene haplotypes. Association between Ag and DNA polymorphisms

Y. Ma, J. A.A. Ladias, R. Butler, V. N. Schumaker, S. E. Antonarakis, A. J. Lusis, C. Heinzman, P. O. Kwiterovich

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


Berg et al. (Clin Genet 1986;30:515-520) have reported that an Xba I DNA polymorphic site in exon 26 of the apolipoprotein (apo) B gene is associated both with the Ag(x/y) immunochemical polymorphism and with elevated serum lipoprotein levels. Ma et al. (Arteriosclerosis 1987;7:301-305) have reported that the same Xba I polymorphism is associated with a different immunochemical polymorphism Ag(c/g). To extend and clarify these observations, we have determined the Ag and Xba I polymorphism for 106 individuals. We find that the Xba I restriction fragment length polymorphism is in linkage disequilibrium with both Ag(x/y) and Ag(c/g) loci; thus, all 31 Xba I(X1/X1) genotypes observed in this study are also Ag(y/y). All but one of 22 Xba I(X2/X2) genotypes are also Ag(g/g). For individualse homozygous at either two or three of these loci, it was possible to determine the haplotypes for 128 apo B alleles. Of the eight possible apo B haplotypes, only four were represented in this unambiguous subpopulation, although other minor haplotypes were present in the total population from which it was derived. The identification of major apo B haplotypes in human populations may simplify the search for significant correlations between certain apo B alleles and lipid levels and atherosclerosis.

Original languageEnglish (US)
Pages (from-to)521-524
Number of pages4
Issue number5
StatePublished - 1988
Externally publishedYes

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine


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