[The clinico-genetic aspects of familial hypercholesterolemia and their applied significance].
Clinico-biochemical, genealogical evidence was compared to molecular-genetic findings on LDLP receptor gene in 4 families with a history of high blood cholesterol. It was found that members of the same family carrying the anomalous gene can demonstrate varying atherogenic shift in blood lipid fractions suggesting involvement of other endo- and exogenic factors. Molecular-genetic examination of subjects with family hypercholesterolemia discovered a family with structural derangement of the gene, two families with spot defects and a family in which the proband's hypercholesterolemia seemed unrelated to changes in the gene, but probably related to the gene controlling synthesis of apoB-protein.
Lipovetskiĭ
B M
BM
Mandel'shtam
M Iu
MIu
Gaĭtskhoki
V S
VS
Vasil'eva
L E
LE
D000293:Adolescent; D000328:Adult; D001055:Apolipoproteins B / Q000235:genetics; D002648:Child; D004247:DNA / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000235:genetics*; D008055:Lipids / Q000097:blood; D008297:Male; D008875:Middle Aged; D009693:Nucleic Acid Hybridization; D010375:Pedigree; D011973:Receptors, LDL / Q000235:genetics
D001055:Apolipoproteins B; D008055:Lipids; D011973:Receptors, LDL; D004247:DNA
Kliniko-geneticheskie aspekty semeĭnoĭ giperkholesterinemii i ikh prikladnoe znachenie.