title: Rapid screening of the LDL receptor point mutation FH-Genoa/Palermo. Mutation in brief no. 238. Online.
abstract: The LDL-receptor gene point mutation FH-Genoa/Palermo is the most frequent mutation responsible for Familial Hypercholesterolemia in Sicily. The mutation does not introduce or abolish any useful restriction site. We establish a GeneComb-based strategy to identify this mutation in a population of Sicilian unrelated clinically diagnosed FH probands. The method was very sensitive and specific; 12 out of 90 (13.3%) unrelated FH probands were found to carry the FH-Genoa/Palermo mutation. According to these results, the FH-Genoa/Palermo is the more frequent LDL-receptor gene mutation among the Sicilian FH patients. Moreover FH-Genoa/Palermo is the mutation cluster to date more represented in Southern Italy.
authors.affiliation: Istituto di Medicina Interna e Geriatria, Department of Internal Medicine, University of Palermo, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Marino
authors.forename: S
authors.initials: S
authors.lastname: Travali
authors.forename: T
authors.initials: T
authors.lastname: Reyes
authors.forename: B R
authors.initials: BR
authors.lastname: Wallace
authors.forename: R
authors.initials: R
authors.lastname: Caldarella
authors.forename: S
authors.initials: S
authors.lastname: Travali
authors.forename: G
authors.initials: G
authors.lastname: Emmanuele
authors.forename: F
authors.initials: F
authors.lastname: Stivala
authors.forename: C M
authors.initials: CM
authors.lastname: Barbagallo
authors.forename: A
authors.initials: A
authors.lastname: Cantafora
authors.forename: S
authors.initials: S
authors.lastname: Bertolini
authors.forename: A
authors.initials: A
authors.lastname: Notarbartolo
authors.forename: M
authors.initials: M
authors.lastname: Averna
mesh_terms: D005820:Genetic Testing; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D017354:Point Mutation; D011973:Receptors, LDL / Q000235:genetics*
chemical_list: D011973:Receptors, LDL