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-specifi c 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.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
F. M. Zakharova, Yu. A. Tatishcheva, V. I. Golubkov, et al., Genetika, 43, No. 9, 1255–1262 (2007).
M. Yu. Mandelstam and V. B. Vasilyev, Genetika, 44, No. 10, 1309–1316 (2008).
K. Aalto-Setala, H. Gylling, T. Miettinen, and K. Kontula, FEBS Lett., 230, Nos. 1-2, 31–34 (1988).
K. Aalto-Setala, E. Helve, P. T. Kovanen, and K. Kontula, J. Clin. Invest., 84, No. 2, 499–505 (1989).
B. J. Bassam, G. Caetano-Anolles, and P. M. Gresshoff, Anal. Biochem., 196, No. 1, 80–83 (1991).
G. V. Z. Deboussis, H. Schmidt, and J. Genschel, Hum. Mutat., 24, No. 6, 443–459 (2004).
J. L. Goldstein, H. H. Hobbs, and M. S. Brown, Familial Hypercholesterolaemia. The Metabolic and Molecular Basis of Inherited Disease, Vol. III, Eds. C. R. Scriver et al., New York (2001), pp. 2863–2914.
M. Keinanen, J.-P. Ojala, E. Helve, et al., Clin. Chem., 36, No. 6, 900–903 (1990).
U. M. Koivisto, H. Turtola, K. Aalto-Setala, et al., J. Clin. Invest., 90, No. 1, 219–228 (1992).
K. Kontula, U. M. Koivisto, P. Koivisto, and H. Turtola, Ann. Med., 24, No. 5, 363–367 (1992).
L. M. Kunkel, K. D. Smith, S. H. Boyer, et al., Proc. Natl. Acad. Sci. USA, 74, No. 3, 1245–1249 (1977).
A. Markoff, A. Savov, V. Vladimirov, et al., Clin. Chem., 43, No. 1, 30–33 (1997).
F. M. Zakharova, D. Damgaard, M. Y. Mandelshtam, et al., BMC Med. Genet., 6, 6 (2005).
Author information
Authors and Affiliations
Corresponding author
Additional information
Translated from Byulleten’ Eksperimental’noi Biologii i Meditsiny, Vol. 155, No. 3, pp. 359-362, March, 2013
Rights and permissions
About this article
Cite this article
Komarova, T.Y., Golovina, A.S., Grudinina, N.A. et al. “Finnish” Mutations in LDL Receptor Gene: A Rare Cause of Familial Hypercholesterolemia in St. Petersburg and Petrozavodsk. Bull Exp Biol Med 155, 380–383 (2013). https://doi.org/10.1007/s10517-013-2159-4
Received:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10517-013-2159-4