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Rapid screening of the LDL receptor point mutation FH‐Genoa/Palermo
Author(s) -
Marino Giuseppina,
Travali Salvatore,
Reyes Tony,
Wallace Bruce R.,
Caldarella Rosalia,
Travali Simone,
Emmanuele Giovanni,
Stivala Franca,
Barbagallo Carlo M.,
Cantafora Alfredo,
Bertolini Stefano,
Notarbartolo Alberto,
Averna Maurizio
Publication year - 1999
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1999)13:5<412::aid-humu12>3.0.co;2-q
Subject(s) - mutation , point mutation , biology , proband , sicilian , genetics , population , gene , medicine , linguistics , philosophy , environmental health
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. Hum Mutat 13:412–412, 1999. © 1999 Wiley‐Liss, Inc.