06/23 - Ipercolesterolemia familiare e difetti nel gene del recettore delle lipoproteine a bassa densità. Mutazioni italiane e loro analisi.A cura di Alfredo Cantafora, Francesca Prestinaci e Ida Blotta2006, ii, 90 p.

Familial hypercholesterolemia due to defects in the gene encoding the LDL receptor. Mutations occurring in Italy and their analysis.
Edited by Alfredo Cantafora, Francesca Prestinaci and Ida Blotta
2006, ii, 90 p. (in Italian)

Low-Density Lipoprotein Receptor (LDLR) gene undergoes a great number of either small or gross mutations that cause in their homozygote and heterozygote carriers the classical familial hypercholesterolemia. In spite of the great advances in the development of efficient techniques for mutation detection, the wide spectrum of mutations that may affect this gene prevented the introduction of commercial diagnostics kits capable to satisfy the needs that derive from a genetically heterogeneous Country such as Italy. This volume is aimed at offering, to laboratories involved in the clinical diagnostics of human dyslipidemias, all available information about pathological LDLR mutations in our Country, as well as their areas of distributions. Besides, the volume describes some simple analytical techniques based on PCR and enzyme restrictions that may be easily performed by every diagnostic laboratory for the detection of 23 among the most common mutations found in our Country.
Key words: Genetics, Familial hypercholesterolemia, Molecular diagnostics