Rapid screening of the LDL receptor point mutation FH-Genoa/Palermo. Mutation in brief no. 238. Online.
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.
Marino
G
G
Istituto di Medicina Interna e Geriatria, Department of Internal Medicine, University of Palermo, Italy.
Travali
S
S
Reyes
T
T
Wallace
B R
BR
Caldarella
R
R
Travali
S
S
Emmanuele
G
G
Stivala
F
F
Barbagallo
C M
CM
Cantafora
A
A
Bertolini
S
S
Notarbartolo
A
A
Averna
M
M
D005820:Genetic Testing; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D017354:Point Mutation; D011973:Receptors, LDL / Q000235:genetics*
D011973:Receptors, LDL