UNLABELLED: Low density lipoprotein receptor (LDLR) gene mutations cause familial hypercholesterolemia which is associated with elevated risk of ischemic heart disease. AIM: To define LDLR gene mutations in unrelated patients with heterozygous familial hypercholesterolemia in Russia. METHODS: PCR- single-strand conformation polymorphism analysis, automated DNA sequencing, and test for the presence of the apolipoprotein (apo) B-3500 mutation known to induce hereditary defect in apo-B-100. RESULTS: We found 6 novel mutations of LDLR gene designated E8X, 230insG, 671_679dupGACAAATCT, W422R, D461Y, and V698L. We also identified three missense mutations - C139G, E207K and R395W, which were previously described in FH patients from western populations. None of the studied persons had apo-B-3500 mutation. CONCLUSION: These findings broaden knowledge on mutations responsible for development of familial hypercholesterolemia and confirm molecular heterogeneity of this disease in Russia.
UNLABELLED: Low density lipoprotein receptor (LDLR) gene mutations cause familial hypercholesterolemia which is associated with elevated risk of ischemic heart disease. AIM: To define LDLR gene mutations in unrelated patients with heterozygous familial hypercholesterolemia in Russia. METHODS: PCR- single-strand conformation polymorphism analysis, automated DNA sequencing, and test for the presence of the apolipoprotein (apo) B-3500 mutation known to induce hereditary defect in apo-B-100. RESULTS: We found 6 novel mutations of LDLR gene designated E8X, 230insG, 671_679dupGACAAATCT, W422R, D461Y, and V698L. We also identified three missense mutations - C139G, E207K and R395W, which were previously described in FHpatients from western populations. None of the studied persons had apo-B-3500 mutation. CONCLUSION: These findings broaden knowledge on mutations responsible for development of familial hypercholesterolemia and confirm molecular heterogeneity of this disease in Russia.
Authors: Alyaa Al-Khateeb; Mohd K Zahri; Mohd S Mohamed; Teguh H Sasongko; Suhairi Ibrahim; Zurkurnai Yusof; Bin A Zilfalil Journal: BMC Med Genet Date: 2011-03-19 Impact factor: 2.103
Authors: Faina M Zakharova; Dorte Damgaard; Michail Y Mandelshtam; Valery I Golubkov; Peter H Nissen; Gitte G Nilsen; Anette Stenderup; Boris M Lipovetsky; Vladimir O Konstantinov; Alexander D Denisenko; Vadim B Vasilyev; Ole Faergeman Journal: BMC Med Genet Date: 2005-02-08 Impact factor: 2.103
Authors: Tatiana Yu Komarova; Victoria A Korneva; Tatiana Yu Kuznetsova; Alexandra S Golovina; Vadim B Vasilyev; Michail Yu Mandelshtam Journal: BMC Med Genet Date: 2013-12-27 Impact factor: 2.103