Apolipoprotein B amino acid 3611 substitution from arginine to glutamine creates the Ag (h/i) epitope: the polymorphism is not associated with differences in serum cholesterol and apolipoprotein B levels.
A G- to A-DNA sequence change in exon 26 of the human apolipoprotein B (apo B) gene leads to a glutamine substitution for arginine at codon 3611 of the mature apolipo-protein B100 and causes a loss of an MspI site. In 106 Finnish individuals, a complete correspondence exists between this MspI polymorphic site and the Ag (h/i) immunochemical polymorphism. Linkage disequilibrium was found between this MspI polymorphic site and the apo B XbaI and EcoRI variable sites and the Ag (al/d) and (c/g) epitope pairs; there is apparent linkage equilibrium with the apo B PvuII variable site. Based on three population studies (samples from London. Finland and Italy), no significant association was found between this RFLP and serum cholesterol and apo B levels. These data suggest that the arginine 3611----glutamine 3611 substitution has no significant effect on apo B function.
Xu
C F
CF
Charing Cross Sunley Research Centre, London, UK.
Nanjee
N
N
Tikkanen
M J
MJ
Huttunen
J K
JK
Pietinen
P
P
Bütler
R
R
Angelico
F
F
Del Ben
M
M
Mazzarella
B
B
Antonio
R
R
D000328:Adult; D001055:Apolipoproteins B / Q000097:blood / Q000235:genetics*; D001120:Arginine / Q000235:genetics; D015139:Blotting, Southern; D002648:Child; D002784:Cholesterol / Q000097:blood*; D019003:Deoxyribonuclease HpaII; D015252:Deoxyribonucleases, Type II Site-Specific; D000939:Epitopes / Q000235:genetics; D005091:Exons; D005260:Female; D005973:Glutamine / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length
D001055:Apolipoproteins B; D000939:Epitopes; D005973:Glutamine; D001120:Arginine; D002784:Cholesterol; D019003:Deoxyribonuclease HpaII; D015252:Deoxyribonucleases, Type II Site-Specific