Rapid screening of the LDL receptor point mutation FH-Genoa/Palermo. Mutation in brief no. 238. Online

• Published in: Human mutation Vol. 13; no. 5; p. 412
• Main Authors: Marino, G, Travali, S, Reyes, T, Wallace, B R, Caldarella, R, Emmanuele, G, Stivala, F, Barbagallo, C M, Cantafora, A, Bertolini, S, Notarbartolo, A, Averna, M
• Format: Journal Article
• Language: English
• Published: United States 1999
• Subjects: Genetic Testing; Humans; Hyperlipoproteinemia Type II - genetics; Point Mutation; Receptors, LDL - genetics
• ISSN: 1059-7794
• DOI: 10.1002/(SICI)1098-1004(1999)13:5<412::AID-HUMU12>3.0.CO;2-Q

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.