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Four New Mutations and Two Polymorphic Variants of the Low-Density Lipoprotein Receptor Gene in Familial Hypercholesterolemia Patients from St. Petersburg
Authors:Tatishcheva  Yu A  Mandelshtam  M Yu  Golubkov  V I  Lipovetsky  B M  Gaitskhoki  V S
Institution:(1) Institute for Experimental Medicine, Russian Academy of Medical Sciences, St. Petersburg, 197376, Russia;(2) Institute of the Human Brain, Russian Academy of Sciences, St. Petersburg, 197022, Russia
Abstract:In a collection of DNA samples from 100 unrelated patients with clinical features of familial hypercholesterolemia (FH), a search for mutations of exons 4 and 10 of the low-density lipoprotein (LDL) receptor gene was performed using heteroduplex and single-strand conformational polymorphism (SSCP) analyses followed by sequencing of amplified DNA fragments. Four new mutations of the LDL receptor gene were identified: C146R (c.499 T > C), A130P (c.451 G > C), G128G (c.477 T > C), and C188Y (c.626 G > A). Mutation A130P was assigned to the same chromosome with allele variant 447C. Two polymorphic sites in exon 10 of the LDL receptor gene (1413G/A and 1545C/T) were found in the Russian population for the first time. Based on the data obtained, familial hypercholesterolemia was confirmed in seven patients.
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