title: [A multiexon deletion in the human low density lipoprotein receptor gene as a reason for familial hypercholesterolemia].
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: D005091:Exons; D018740:Genetic Heterogeneity; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D015335:Molecular Probes; D012150:Polymorphism, Restriction Fragment Length; D011973:Receptors, LDL / Q000235:genetics*; D012426:Russia; D017384:Sequence Deletion
chemical_list: D015335:Molecular Probes; D011973:Receptors, LDL
vernacular_title: Mul'tiékzonnaia deletsiia v gene retseptora lipoproteinov nizkoĭ plotnosti cheloveka kak prichina semeĭnoĭ giperkholesterinemii.