Apolipoprotein B gene haplotypes. Association between Ag and DNA polymorphisms.
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 individuals 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.
Ma
Y H
YH
Department of Chemistry and Biochemistry, University of California, Los Angeles 90024.
Ladias
J A
JA
Bütler
R
R
Schumaker
V N
VN
Antonarakis
S E
SE
Lusis
A J
AJ
Heinzman
C
C
Kwiterovich
P O
PO
D001055:Apolipoproteins B / Q000097:blood / Q000235:genetics*; D001161:Arteriosclerosis / Q000235:genetics*; D015139:Blotting, Southern; D002784:Cholesterol / Q000097:blood; D003062:Codon; D004247:DNA / Q000235:genetics*; D015252:Deoxyribonucleases, Type II Site-Specific; D000939:Epitopes / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D014280:Triglycerides / Q000097:blood
D001055:Apolipoproteins B; D003062:Codon; D000939:Epitopes; D014280:Triglycerides; D004247:DNA; D002784:Cholesterol; C025580:endodeoxyribonuclease XBAI; D015252:Deoxyribonucleases, Type II Site-Specific