Familial hypercholesterolemia in St. Petersburg: Diversity of mutations argues against a strong founder effect

Russian Journal of Genetics

Volumn 43, Issue 9, 2007, Pages 1046-1052

  Zakharova, F M ^a   Tatishcheva, Yu A ^a   Golubkov, V I ^a   Lipovetsky, B M ^b   Konstantinov, V O ^c   Denisenko, A D ^a   Faergeman, O ^d   Vasilyev, V B ^a   Mandelshtam, M Yu ^a  

^a INSTITUTE OF EXPERIMENTAL MEDICINE   (Russian Federation)

^b Brain Ctr and Inst for Human Brain   (Russian Federation)

^c NORTH WESTERN STATE MEDICAL UNIVERSITY NAMED AFTER I I MECHNIKOV   (Russian Federation)

^d AARHUS UNIVERSITY HOSPITAL   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 34848900091     PISSN: 10227954     EISSN: 16083369     Source Type: Journal    
DOI: 10.1134/S1022795407090116     Document Type: Article

References (35)

1. Goldstein, J.L., Hobbs, H.H., and Brown, M.S., Familial Hypercholesterolemia, The Metabolic and Molecular Basis of Inherited Disease, Scriver, C.R., Beaudet, A.L., and Sly, W.S., Eds., New York: McGraw Hill, 2001, vol. 3, pp. 2863-2914.
2. Villéger, L., Abifadel, M., Allard, D., et al., The UMDLDLR Database: Additions to the Software and 490 New Entries to the Database, Hum. Mutat., 2002, vol. 20, pp. 81-87.
3. Dedoussis, G.V.Z., Schmidt, H., and Genschel, J., LDL-Receptor Mutations in Europe, Hum. Mutat., 2004, vol. 24, pp. 443-459.
4. http://www.ucl.ac.uk/fh/
5. http://www.umd.necker.fr
6. Mandelshtam, M.Yu., Lipovetsky, B.M., Schwartzman, A.L., and Gaitskhoki, V.S., Molecular Heterogeneity of Familial Hypercholesterolemia in the St. Petersburg Population, Russ. J. Genet., 1995, vol. 31, no. 4, pp. 447-452.
7. Tatishcheva, Yu.A., Mandelshtam, M.Yu., Golubkov, V.I., et al., Four New Mutations and Two Polymorphic Variants of the Low-Density Lipoprotein Receptor Gene in Familial Hypercholesterolemia Patients from St. Petersburg, Russ. J. Genet., 2001, vol. 37, no. 9, pp. 1082-1086.
8. Kunkel, L.M., Smith, K.D., Boyer, S.H., et al., Analysis of Human Y-Chromosome-Specific Reiterated DNA in Chromosome Variants, Proc. Natl. Acad. Sci. USA, 1977, vol. 74, pp. 1245-1249.
9. Hansen, P.S., Rüdiger, N., Tybjaerg-Hansen, A., et al., Detection of the apoB-3500 Mutation (Glutamine for Arginine) by Gene Amplification and Cleavage with MspI, J. Lipid Res., 1991, vol. 32, no. 7, pp. 1229-1233.
10. Hobbs, H.H., Brown, M.S., and Goldstein, J.L., Molecular Genetics of the LDL Receptor Gene in Familial Hypercholesterolemia, Hum. Mutat., 1992, vol. 1, pp. 445-466.
11. Jensen, H.K., Jensen, L.G., Hansen, P.S., et al., High Sensitivity of the Single-Strand Conformation Polymorphism Method for Detecting Sequence Variations in the Low-Density Lipoprotein Receptor Gene Validated by DNA Sequencing, Clin. Chem., 1996, vol. 42, pp. 1140-1146.
12. Oto, M., Miyake, S., and Ywaza, Y., Optimization of Nonradioisotopic Single Strand Conformation Polymorphism Analysis with a Conventional Minislab Gel Electrophoresis Apparatus, Anal. Biochem., 1993, vol. 213, pp. 19-22.
13. Mandelshtam, M.Yu., Lipovetsky, B.M., Schwartzman, A.L., and Gaitskhoki, V.S., Identification of a Novel Deletion in the Human Low Density Lipoprotein Receptor Gene in a Patient with Familial Hypercholesterolemia, Biopolim. Kletka, 1991, vol. 7, no. 3, pp. 38-45.
14. Mandelshtam, M.Ju., Lipovetskyi, B.M., Schwartzman, A.L., and Gaitskhoki, V.S., A Novel Deletion in the Low Density Lipoprotein Receptor Gene in a Patient with Familial Hypercholesterolemia from Petersburg, Hum. Mutat., 1993, vol. 2, no. 4, pp. 256-260.
15. Horsthemke, B., Dunning, A., and Humphries, S., Identification of Deletions in the Human Low Density Lipoprotein Receptor Gene, J. Med. Genet., 1987, vol. 24, no. 3, pp. 144-147.
16. Langlois, S., Kastelein, J.J.P., and Hayden, M.R. Characterization of Six Partial Deletions in the Low-Density-Lipoprotein (LDL) Receptor Gene Causing Familial Hypercholesterolemia (FH), Am. J. Hum. Genet., 1988, vol. 43, pp. 60-68.
17. Zakharova, F.M., Golubkov, V.I., Mandelshtam, M.Yu., et al., Identification of Novel Missense Mutation G571E, Novel Silent Mutation H229H, Nonsense Mutation C74X, and Four Single Nucleotide Polymorphisms in the Low-Density Lipoprotein Receptor Gene in Patients with Familial Hypercholesterolemia from St. Petersburg, Russ. J. Bioorganic Chem., 2001, vol. 27, no. 5, pp. 349-351.
18. F.M. Zakharova D. Damgaard M.Y. Mandelshtam 2005 Familial Hypercholesterolemia in St-Petersburg: The Known and Novel Mutations Found in the Low Density Lipoprotein Receptor Gene in Russia BMC Med. Genet. 6 1 6 Zakharova F.M., Damgaard D., Mandelshtam M.Y., et al., Familial Hypercholesterolemia in St-Petersburg: The Known and Novel Mutations Found in the Low Density Lipoprotein Receptor Gene in Russia, BMC Med. Genet., 2005, vol. 6, no 1, p. 6 ( http://www.biomedcentral.com/1471-2350-6-6 ).
19. Lombardi, P., Sijbrands, E.J.G., Kamerling, S., et al., The T705 Mutation of the Low Density Lipoprotein Receptor Gene (FH Paris-9) does not Cause Familial Hypercholesterolemia, Hum. Genet., 1997, vol. 99, no. 1, pp. 106-107.
20. Mandelshtam M.Ju., Golubkov V.I., Schur Yu.A., et al., A Novel Mutation 347delGCC in the Human Low Density Lipoprotein Receptor Gene, Russ. J. Bioorganic Chem., 1998, vol. 24, no. 10, pp. 710-711.
21. Chakir Kh., Skobeleva N.A., Shevtsov S.P., et al., Two novel Slavic Point Mutations in the Low-Density Lipoprotein Receptor Gene in Patients with Familial Hypercholesterolemia from St. Petersburg, Russia, Mol. Genet. Metabol., 1998, vol. 63, pp. 31-34.
22. Mandelshtam, M.Yu. and Maslennikov, A.B., Study of Molecular Genetics of Familial Hypercholesterolemia, Molekularno-biologicheskie tekhnologii v meditsinskoy praktike (Molecular Biology Technologies in Medical Practice), Maslennikov, A.B., Ed., Novosibirsk: Manuskript, 2001, pp. 58-64.
23. Blacklow, S.C. and Kim, P.S., Protein Folding and Calcium Binding Defects Arising from Familial Hypercholesterolemia Mutations of the LDL Receptor, Nat. Struct. Biol., 1996, vol. 3, no. 9, pp. 758-762.
24. Leitersdorf, E., Tobin, E.J., Davignon, J., and Hobbs, H.H. (1990) Common Low Density Lipoprotein Receptor Mutations in the French Canadian Population, J. Clin. Invest., 1990, vol. 85, no. 4, pp. 1014-1023.
25. Shevtsov, S.P., The APOB Gene Encoding Putative Low Density Lipoprotein Receptor Binding Domain of the APOB-100 Protein Shows no DNA Polymorphisms, Rus. J. Genet., 1996, vol. 32, no. 2, pp. 261-263.
26. Krapivner, S.R., Malyshev, P.P., Rozhkova, T.A., et al., Application of DNA Analysis for Differential Diagnosis of Familial Hypercholesterolemia and Familial Defect of Apolipoprotein B-100, Ter. Arkh., 2000, vol. 72, no. 4, pp. 9-12.
27. Kukharchuk, V.V., Stambolsky, D.V., Malyshev, P.P., et al., Diagnosis of Familial Hypercholesterolemia, in Fundamental'nye issledovaniya i progress kardiologii (Fundamental Research and Progress in Cardiology), Proc. Sic., Conf., Moscow, 2002, pp. 63-71.
28. Abifadel, M., Varret, M., Rabès, J.P., et al., Mutations in PCSK9 Cause Autosomal Dominant Hypercholesterolemia, Nat. Genet., 2003, vol. 34, pp. 154-156.
29. Amsellem, S., Briffaut, D., Carrie, A., et al., Intronic Mutations Outside of Alu-Repeat-Rich Domains of the LDL Receptor Gene are a Cause of Familial Hypercholesterolemia, Hum. Genet., 2002, vol. 111, pp. 501-510.
30. Kuhrova, V., Francova, H., Zapletalova, P., et al., Spectrum of Low Density Lipoprotein Receptor Mutations in Czech Hypercholesterolemic Patients, Hum. Mutat., 2002, vol. 19, p. 80.
31. Meiner, V., Landsberger, D., Berkman, N., et al., A Common Lithuanian Mutation Causing Familial Hypercholesterolemia in Ashkenazi Jews, Am. J. Hum. Genet., 1991, vol. 49, pp. 443-449.
32. Mandelshtam, M., Chakir, Kh., Shevtsov, S., et al., Prevalence of Lithuanian Mutation among St. Petersburg Jews with Familial Hypercholesterolemia, Human Mutat., 1998, vol. 12, pp. 255-258.
33. Meshkov, A.N., Stambolsky, D.V., Krapivner, S.R., et al., Low Density Lipoprotein Receptor Gene Mutations in Patients with Clinical Diagnosis of Familial Hypercholesterolemia, Kardiologya, 2004, vol. 44, no. 9, pp. 58-61.
34. Mandelshtam, M.Yu., What Were the Outcomes of Familial Hypercholesterolemia Studies for Understanding of the Hyperlipidemia Genetics? Med. Genet., 2003, vol. 2, pp. 509-519.
35. http://www.iemrams.spb.ru/english/molgen/fh-en/fhrusen.htm