A very conservative region of ApoB-100 in the putative binding region to the LDL receptor in the Toulouse population.
The nucleotide sequence of the putative binding site of ApoB-100 was studied in Hypercholesterolemic IIa patients and controls from the Toulouse area. Only one patient possesses the 3,500 mutation, which is responsible for defective familial hypercholesterolemia. The other individuals (including 39 patients and 14 controls) display the same nucleotide sequence although four nucleotide substitutions have been described in this region. This homogeneity of the Toulouse population in the putative binding site of ApoB-100 is discussed.
Avoustin
P
P
INSERM U100 CHU Purpan, Toulouse, France.
Mostachi
H
H
Perret
B
B
Cambou
J P
JP
Cambien
F
F
de Préval
C
C
D000328:Adult; D000595:Amino Acid Sequence; D053299:Apolipoprotein B-100; D001055:Apolipoproteins B / Q000235:genetics* / Q000378:metabolism; D001483:Base Sequence; D001665:Binding Sites; D004247:DNA; D004591:Electrophoresis, Polyacrylamide Gel; D005602:France; D005828:Genetics, Population; D006801:Humans; D006937:Hypercholesterolemia / Q000235:genetics; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011973:Receptors, LDL / Q000378:metabolism*; D016415:Sequence Alignment
D053299:Apolipoprotein B-100; D001055:Apolipoproteins B; D011973:Receptors, LDL; D004247:DNA