title: [Molecular heterogeneity of familial hypercholesterolemia in the St. Petersburg population].
abstract: Inheritance of Taq I, BstE II, and Nco I restriction fragment length polymorphisms (RFLP) in three families from St. Petersburg with familial hypercholesterolemia (FH) was studied. In two of these families, polymorphic markers of the low density lipoprotein receptor (LDLR) gene cosegregated with the disease. This data confirmed FH diagnosis based on the analysis of blood plasma lipid levels. Three different RFLP haplotypes were associated with the disease, suggesting the presence of at least three point mutations in the LDLR gene in the population studied, i.e., suggesting molecular heterogeneity of FH in the St. Petersburg population.
authors.forename: M Iu
authors.initials: MIu
authors.lastname: Mandel'shtam
authors.forename: B M
authors.initials: BM
authors.lastname: Lipovetskiĭ
authors.forename: A L
authors.initials: AL
authors.lastname: Shvartsman
authors.forename: V S
authors.initials: VS
authors.lastname: Gaĭtskhoki
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D015342:DNA Probes; D005260:Female; D018740:Genetic Heterogeneity; D006239:Haplotypes; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011973:Receptors, LDL / Q000235:genetics*; D012426:Russia
chemical_list: D015342:DNA Probes; D011973:Receptors, LDL