title: "Finnish" mutations in LDL receptor gene: a rare cause of familial hypercholesterolemia in St. Petersburg and Petrozavodsk.
abstract: The search for two mutations, FH-Helsinki and FH-North Karelia, in LDL receptor gene was carried out in patients with familial hypercholesterolemia from St. Petersburg (80 families) and Petrozavodsk (80 families) using allele-specific PCR and analysis of single-stranded DNA fragment conformation polymorphism (SSCP analysis) with subsequent sequencing. The FH-North Karelia mutation was found in one family in St. Petersburg and in one family in Petrozavodsk, while FH-Helsinki mutation was not detected in any of the samples. Hence, the two "Finnish" mutations together responsible for 2/3 familial hypercholesterolemia cases in Finland were extremely rare in the Russian regions neighboring Finland.
authors.affiliation: Institute of Experimental Medicine, North-Western Division of the Russian Academy of Medical Sciences, St. Petersburg, Russia. michail@MM13666.spb.edu.
authors.forename: T Yu
authors.initials: TY
authors.lastname: Komarova
authors.forename: A S
authors.initials: AS
authors.lastname: Golovina
authors.forename: N A
authors.initials: NA
authors.lastname: Grudinina
authors.forename: F M
authors.initials: FM
authors.lastname: Zakharova
authors.forename: V A
authors.initials: VA
authors.lastname: Korneva
authors.forename: B M
authors.initials: BM
authors.lastname: Lipovetskii
authors.forename: M P
authors.initials: MP
authors.lastname: Serebrenitskaya
authors.forename: V O
authors.initials: VO
authors.lastname: Konstantinov
authors.forename: V B
authors.initials: VB
authors.lastname: Vasilyev
authors.forename: M Yu
authors.initials: MY
authors.lastname: Mandelshtam
mesh_terms: D005387:Finland / Q000453:epidemiology; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000453:epidemiology* / Q000235:genetics*; D015994:Incidence; D060885:Multiplex Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011973:Receptors, LDL / Q000235:genetics*; D012426:Russia; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: C573412:LDLR protein, human; D011973:Receptors, LDL